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Writing a Literature Review

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A literature review is a document or section of a document that collects key sources on a topic and discusses those sources in conversation with each other (also called synthesis ). The lit review is an important genre in many disciplines, not just literature (i.e., the study of works of literature such as novels and plays). When we say “literature review” or refer to “the literature,” we are talking about the research ( scholarship ) in a given field. You will often see the terms “the research,” “the scholarship,” and “the literature” used mostly interchangeably.

Where, when, and why would I write a lit review?

There are a number of different situations where you might write a literature review, each with slightly different expectations; different disciplines, too, have field-specific expectations for what a literature review is and does. For instance, in the humanities, authors might include more overt argumentation and interpretation of source material in their literature reviews, whereas in the sciences, authors are more likely to report study designs and results in their literature reviews; these differences reflect these disciplines’ purposes and conventions in scholarship. You should always look at examples from your own discipline and talk to professors or mentors in your field to be sure you understand your discipline’s conventions, for literature reviews as well as for any other genre.

A literature review can be a part of a research paper or scholarly article, usually falling after the introduction and before the research methods sections. In these cases, the lit review just needs to cover scholarship that is important to the issue you are writing about; sometimes it will also cover key sources that informed your research methodology.

Lit reviews can also be standalone pieces, either as assignments in a class or as publications. In a class, a lit review may be assigned to help students familiarize themselves with a topic and with scholarship in their field, get an idea of the other researchers working on the topic they’re interested in, find gaps in existing research in order to propose new projects, and/or develop a theoretical framework and methodology for later research. As a publication, a lit review usually is meant to help make other scholars’ lives easier by collecting and summarizing, synthesizing, and analyzing existing research on a topic. This can be especially helpful for students or scholars getting into a new research area, or for directing an entire community of scholars toward questions that have not yet been answered.

What are the parts of a lit review?

Most lit reviews use a basic introduction-body-conclusion structure; if your lit review is part of a larger paper, the introduction and conclusion pieces may be just a few sentences while you focus most of your attention on the body. If your lit review is a standalone piece, the introduction and conclusion take up more space and give you a place to discuss your goals, research methods, and conclusions separately from where you discuss the literature itself.

Introduction:

• An introductory paragraph that explains what your working topic and thesis is
• A forecast of key topics or texts that will appear in the review
• Potentially, a description of how you found sources and how you analyzed them for inclusion and discussion in the review (more often found in published, standalone literature reviews than in lit review sections in an article or research paper)
• Summarize and synthesize: Give an overview of the main points of each source and combine them into a coherent whole
• Analyze and interpret: Don’t just paraphrase other researchers – add your own interpretations where possible, discussing the significance of findings in relation to the literature as a whole
• Critically Evaluate: Mention the strengths and weaknesses of your sources
• Write in well-structured paragraphs: Use transition words and topic sentence to draw connections, comparisons, and contrasts.

Conclusion:

• Summarize the key findings you have taken from the literature and emphasize their significance
• Connect it back to your primary research question

How should I organize my lit review?

Lit reviews can take many different organizational patterns depending on what you are trying to accomplish with the review. Here are some examples:

• Chronological : The simplest approach is to trace the development of the topic over time, which helps familiarize the audience with the topic (for instance if you are introducing something that is not commonly known in your field). If you choose this strategy, be careful to avoid simply listing and summarizing sources in order. Try to analyze the patterns, turning points, and key debates that have shaped the direction of the field. Give your interpretation of how and why certain developments occurred (as mentioned previously, this may not be appropriate in your discipline — check with a teacher or mentor if you’re unsure).
• Thematic : If you have found some recurring central themes that you will continue working with throughout your piece, you can organize your literature review into subsections that address different aspects of the topic. For example, if you are reviewing literature about women and religion, key themes can include the role of women in churches and the religious attitude towards women.
• Qualitative versus quantitative research
• Empirical versus theoretical scholarship
• Divide the research by sociological, historical, or cultural sources
• Theoretical : In many humanities articles, the literature review is the foundation for the theoretical framework. You can use it to discuss various theories, models, and definitions of key concepts. You can argue for the relevance of a specific theoretical approach or combine various theorical concepts to create a framework for your research.

What are some strategies or tips I can use while writing my lit review?

Any lit review is only as good as the research it discusses; make sure your sources are well-chosen and your research is thorough. Don’t be afraid to do more research if you discover a new thread as you’re writing. More info on the research process is available in our "Conducting Research" resources .

As you’re doing your research, create an annotated bibliography ( see our page on the this type of document ). Much of the information used in an annotated bibliography can be used also in a literature review, so you’ll be not only partially drafting your lit review as you research, but also developing your sense of the larger conversation going on among scholars, professionals, and any other stakeholders in your topic.

Usually you will need to synthesize research rather than just summarizing it. This means drawing connections between sources to create a picture of the scholarly conversation on a topic over time. Many student writers struggle to synthesize because they feel they don’t have anything to add to the scholars they are citing; here are some strategies to help you:

• It often helps to remember that the point of these kinds of syntheses is to show your readers how you understand your research, to help them read the rest of your paper.
• Writing teachers often say synthesis is like hosting a dinner party: imagine all your sources are together in a room, discussing your topic. What are they saying to each other?
• Look at the in-text citations in each paragraph. Are you citing just one source for each paragraph? This usually indicates summary only. When you have multiple sources cited in a paragraph, you are more likely to be synthesizing them (not always, but often
• Read more about synthesis here.

The most interesting literature reviews are often written as arguments (again, as mentioned at the beginning of the page, this is discipline-specific and doesn’t work for all situations). Often, the literature review is where you can establish your research as filling a particular gap or as relevant in a particular way. You have some chance to do this in your introduction in an article, but the literature review section gives a more extended opportunity to establish the conversation in the way you would like your readers to see it. You can choose the intellectual lineage you would like to be part of and whose definitions matter most to your thinking (mostly humanities-specific, but this goes for sciences as well). In addressing these points, you argue for your place in the conversation, which tends to make the lit review more compelling than a simple reporting of other sources.

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What is a Literature Review? How to Write It (with Examples)

A literature review is a critical analysis and synthesis of existing research on a particular topic. It provides an overview of the current state of knowledge, identifies gaps, and highlights key findings in the literature. 1 The purpose of a literature review is to situate your own research within the context of existing scholarship, demonstrating your understanding of the topic and showing how your work contributes to the ongoing conversation in the field. Learning how to write a literature review is a critical tool for successful research. Your ability to summarize and synthesize prior research pertaining to a certain topic demonstrates your grasp on the topic of study, and assists in the learning process. 

Table of Contents

• What is the purpose of literature review? 
• a. Habitat Loss and Species Extinction: 
• b. Range Shifts and Phenological Changes: 
• c. Ocean Acidification and Coral Reefs: 
• d. Adaptive Strategies and Conservation Efforts: 
• How to write a good literature review 
• Choose a Topic and Define the Research Question: 
• Decide on the Scope of Your Review: 
• Select Databases for Searches: 
• Conduct Searches and Keep Track: 
• Review the Literature: 
• Organize and Write Your Literature Review: 
• Frequently asked questions 

What is a literature review?

A well-conducted literature review demonstrates the researcher’s familiarity with the existing literature, establishes the context for their own research, and contributes to scholarly conversations on the topic. One of the purposes of a literature review is also to help researchers avoid duplicating previous work and ensure that their research is informed by and builds upon the existing body of knowledge.

What is the purpose of literature review?

A literature review serves several important purposes within academic and research contexts. Here are some key objectives and functions of a literature review: 2  

• Contextualizing the Research Problem: The literature review provides a background and context for the research problem under investigation. It helps to situate the study within the existing body of knowledge. 
• Identifying Gaps in Knowledge: By identifying gaps, contradictions, or areas requiring further research, the researcher can shape the research question and justify the significance of the study. This is crucial for ensuring that the new research contributes something novel to the field. 
• Understanding Theoretical and Conceptual Frameworks: Literature reviews help researchers gain an understanding of the theoretical and conceptual frameworks used in previous studies. This aids in the development of a theoretical framework for the current research. 
• Providing Methodological Insights: Another purpose of literature reviews is that it allows researchers to learn about the methodologies employed in previous studies. This can help in choosing appropriate research methods for the current study and avoiding pitfalls that others may have encountered. 
• Establishing Credibility: A well-conducted literature review demonstrates the researcher’s familiarity with existing scholarship, establishing their credibility and expertise in the field. It also helps in building a solid foundation for the new research. 
• Informing Hypotheses or Research Questions: The literature review guides the formulation of hypotheses or research questions by highlighting relevant findings and areas of uncertainty in existing literature. 

Literature review example

Let’s delve deeper with a literature review example: Let’s say your literature review is about the impact of climate change on biodiversity. You might format your literature review into sections such as the effects of climate change on habitat loss and species extinction, phenological changes, and marine biodiversity. Each section would then summarize and analyze relevant studies in those areas, highlighting key findings and identifying gaps in the research. The review would conclude by emphasizing the need for further research on specific aspects of the relationship between climate change and biodiversity. The following literature review template provides a glimpse into the recommended literature review structure and content, demonstrating how research findings are organized around specific themes within a broader topic. 

Literature Review on Climate Change Impacts on Biodiversity:

Climate change is a global phenomenon with far-reaching consequences, including significant impacts on biodiversity. This literature review synthesizes key findings from various studies: 

a. Habitat Loss and Species Extinction:

Climate change-induced alterations in temperature and precipitation patterns contribute to habitat loss, affecting numerous species (Thomas et al., 2004). The review discusses how these changes increase the risk of extinction, particularly for species with specific habitat requirements. 

b. Range Shifts and Phenological Changes:

Observations of range shifts and changes in the timing of biological events (phenology) are documented in response to changing climatic conditions (Parmesan & Yohe, 2003). These shifts affect ecosystems and may lead to mismatches between species and their resources. 

c. Ocean Acidification and Coral Reefs:

The review explores the impact of climate change on marine biodiversity, emphasizing ocean acidification’s threat to coral reefs (Hoegh-Guldberg et al., 2007). Changes in pH levels negatively affect coral calcification, disrupting the delicate balance of marine ecosystems. 

d. Adaptive Strategies and Conservation Efforts:

Recognizing the urgency of the situation, the literature review discusses various adaptive strategies adopted by species and conservation efforts aimed at mitigating the impacts of climate change on biodiversity (Hannah et al., 2007). It emphasizes the importance of interdisciplinary approaches for effective conservation planning. 

How to write a good literature review

Writing a literature review involves summarizing and synthesizing existing research on a particular topic. A good literature review format should include the following elements. 

Introduction: The introduction sets the stage for your literature review, providing context and introducing the main focus of your review. 

• Opening Statement: Begin with a general statement about the broader topic and its significance in the field. 
• Scope and Purpose: Clearly define the scope of your literature review. Explain the specific research question or objective you aim to address. 
• Organizational Framework: Briefly outline the structure of your literature review, indicating how you will categorize and discuss the existing research. 
• Significance of the Study: Highlight why your literature review is important and how it contributes to the understanding of the chosen topic. 
• Thesis Statement: Conclude the introduction with a concise thesis statement that outlines the main argument or perspective you will develop in the body of the literature review. 

Body: The body of the literature review is where you provide a comprehensive analysis of existing literature, grouping studies based on themes, methodologies, or other relevant criteria. 

• Organize by Theme or Concept: Group studies that share common themes, concepts, or methodologies. Discuss each theme or concept in detail, summarizing key findings and identifying gaps or areas of disagreement. 
• Critical Analysis: Evaluate the strengths and weaknesses of each study. Discuss the methodologies used, the quality of evidence, and the overall contribution of each work to the understanding of the topic. 
• Synthesis of Findings: Synthesize the information from different studies to highlight trends, patterns, or areas of consensus in the literature. 
• Identification of Gaps: Discuss any gaps or limitations in the existing research and explain how your review contributes to filling these gaps. 
• Transition between Sections: Provide smooth transitions between different themes or concepts to maintain the flow of your literature review. 

Conclusion: The conclusion of your literature review should summarize the main findings, highlight the contributions of the review, and suggest avenues for future research. 

• Summary of Key Findings: Recap the main findings from the literature and restate how they contribute to your research question or objective. 
• Contributions to the Field: Discuss the overall contribution of your literature review to the existing knowledge in the field. 
• Implications and Applications: Explore the practical implications of the findings and suggest how they might impact future research or practice. 
• Recommendations for Future Research: Identify areas that require further investigation and propose potential directions for future research in the field. 
• Final Thoughts: Conclude with a final reflection on the importance of your literature review and its relevance to the broader academic community. 

Conducting a literature review

Conducting a literature review is an essential step in research that involves reviewing and analyzing existing literature on a specific topic. It’s important to know how to do a literature review effectively, so here are the steps to follow: 1  

Choose a Topic and Define the Research Question:

• Select a topic that is relevant to your field of study. 
• Clearly define your research question or objective. Determine what specific aspect of the topic do you want to explore? 

Decide on the Scope of Your Review:

• Determine the timeframe for your literature review. Are you focusing on recent developments, or do you want a historical overview? 
• Consider the geographical scope. Is your review global, or are you focusing on a specific region? 
• Define the inclusion and exclusion criteria. What types of sources will you include? Are there specific types of studies or publications you will exclude? 

Select Databases for Searches:

• Identify relevant databases for your field. Examples include PubMed, IEEE Xplore, Scopus, Web of Science, and Google Scholar. 
• Consider searching in library catalogs, institutional repositories, and specialized databases related to your topic. 

Conduct Searches and Keep Track:

• Develop a systematic search strategy using keywords, Boolean operators (AND, OR, NOT), and other search techniques. 
• Record and document your search strategy for transparency and replicability. 
• Keep track of the articles, including publication details, abstracts, and links. Use citation management tools like EndNote, Zotero, or Mendeley to organize your references. 

Review the Literature:

• Evaluate the relevance and quality of each source. Consider the methodology, sample size, and results of studies. 
• Organize the literature by themes or key concepts. Identify patterns, trends, and gaps in the existing research. 
• Summarize key findings and arguments from each source. Compare and contrast different perspectives. 
• Identify areas where there is a consensus in the literature and where there are conflicting opinions. 
• Provide critical analysis and synthesis of the literature. What are the strengths and weaknesses of existing research? 

Organize and Write Your Literature Review:

• Literature review outline should be based on themes, chronological order, or methodological approaches. 
• Write a clear and coherent narrative that synthesizes the information gathered. 
• Use proper citations for each source and ensure consistency in your citation style (APA, MLA, Chicago, etc.). 
• Conclude your literature review by summarizing key findings, identifying gaps, and suggesting areas for future research. 

The literature review sample and detailed advice on writing and conducting a review will help you produce a well-structured report. But remember that a literature review is an ongoing process, and it may be necessary to revisit and update it as your research progresses. 

Frequently asked questions

A literature review is a critical and comprehensive analysis of existing literature (published and unpublished works) on a specific topic or research question and provides a synthesis of the current state of knowledge in a particular field. A well-conducted literature review is crucial for researchers to build upon existing knowledge, avoid duplication of efforts, and contribute to the advancement of their field. It also helps researchers situate their work within a broader context and facilitates the development of a sound theoretical and conceptual framework for their studies.

Literature review is a crucial component of research writing, providing a solid background for a research paper’s investigation. The aim is to keep professionals up to date by providing an understanding of ongoing developments within a specific field, including research methods, and experimental techniques used in that field, and present that knowledge in the form of a written report. Also, the depth and breadth of the literature review emphasizes the credibility of the scholar in his or her field.  

Before writing a literature review, it’s essential to undertake several preparatory steps to ensure that your review is well-researched, organized, and focused. This includes choosing a topic of general interest to you and doing exploratory research on that topic, writing an annotated bibliography, and noting major points, especially those that relate to the position you have taken on the topic. 

Literature reviews and academic research papers are essential components of scholarly work but serve different purposes within the academic realm. 3 A literature review aims to provide a foundation for understanding the current state of research on a particular topic, identify gaps or controversies, and lay the groundwork for future research. Therefore, it draws heavily from existing academic sources, including books, journal articles, and other scholarly publications. In contrast, an academic research paper aims to present new knowledge, contribute to the academic discourse, and advance the understanding of a specific research question. Therefore, it involves a mix of existing literature (in the introduction and literature review sections) and original data or findings obtained through research methods. 

Literature reviews are essential components of academic and research papers, and various strategies can be employed to conduct them effectively. If you want to know how to write a literature review for a research paper, here are four common approaches that are often used by researchers.  Chronological Review: This strategy involves organizing the literature based on the chronological order of publication. It helps to trace the development of a topic over time, showing how ideas, theories, and research have evolved.  Thematic Review: Thematic reviews focus on identifying and analyzing themes or topics that cut across different studies. Instead of organizing the literature chronologically, it is grouped by key themes or concepts, allowing for a comprehensive exploration of various aspects of the topic.  Methodological Review: This strategy involves organizing the literature based on the research methods employed in different studies. It helps to highlight the strengths and weaknesses of various methodologies and allows the reader to evaluate the reliability and validity of the research findings.  Theoretical Review: A theoretical review examines the literature based on the theoretical frameworks used in different studies. This approach helps to identify the key theories that have been applied to the topic and assess their contributions to the understanding of the subject.  It’s important to note that these strategies are not mutually exclusive, and a literature review may combine elements of more than one approach. The choice of strategy depends on the research question, the nature of the literature available, and the goals of the review. Additionally, other strategies, such as integrative reviews or systematic reviews, may be employed depending on the specific requirements of the research.

The literature review format can vary depending on the specific publication guidelines. However, there are some common elements and structures that are often followed. Here is a general guideline for the format of a literature review:  Introduction:   Provide an overview of the topic.  Define the scope and purpose of the literature review.  State the research question or objective.  Body:   Organize the literature by themes, concepts, or chronology.  Critically analyze and evaluate each source.  Discuss the strengths and weaknesses of the studies.  Highlight any methodological limitations or biases.  Identify patterns, connections, or contradictions in the existing research.  Conclusion:   Summarize the key points discussed in the literature review.  Highlight the research gap.  Address the research question or objective stated in the introduction.  Highlight the contributions of the review and suggest directions for future research.

Both annotated bibliographies and literature reviews involve the examination of scholarly sources. While annotated bibliographies focus on individual sources with brief annotations, literature reviews provide a more in-depth, integrated, and comprehensive analysis of existing literature on a specific topic. The key differences are as follows: 

References 

• Denney, A. S., & Tewksbury, R. (2013). How to write a literature review.  Journal of criminal justice education ,  24 (2), 218-234. 
• Pan, M. L. (2016).  Preparing literature reviews: Qualitative and quantitative approaches . Taylor & Francis. 
• Cantero, C. (2019). How to write a literature review.  San José State University Writing Center . 

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• University of Texas Libraries

Literature Reviews

• What is a literature review?
• Steps in the Literature Review Process
• Define your research question
• Determine inclusion and exclusion criteria
• Choose databases and search
• Review Results
• Synthesize Results
• Analyze Results
• Librarian Support

What is a Literature Review?

A literature or narrative review is a comprehensive review and analysis of the published literature on a specific topic or research question. The literature that is reviewed contains: books, articles, academic articles, conference proceedings, association papers, and dissertations. It contains the most pertinent studies and points to important past and current research and practices. It provides background and context, and shows how your research will contribute to the field. 

A literature review should: 

• Provide a comprehensive and updated review of the literature;
• Explain why this review has taken place;
• Articulate a position or hypothesis;
• Acknowledge and account for conflicting and corroborating points of view

From  S age Research Methods

Purpose of a Literature Review

A literature review can be written as an introduction to a study to:

• Demonstrate how a study fills a gap in research
• Compare a study with other research that's been done

Or it can be a separate work (a research article on its own) which:

• Organizes or describes a topic
• Describes variables within a particular issue/problem

Limitations of a Literature Review

Some of the limitations of a literature review are:

• It's a snapshot in time. Unlike other reviews, this one has beginning, a middle and an end. There may be future developments that could make your work less relevant.
• It may be too focused. Some niche studies may miss the bigger picture.
• It can be difficult to be comprehensive. There is no way to make sure all the literature on a topic was considered.
• It is easy to be biased if you stick to top tier journals. There may be other places where people are publishing exemplary research. Look to open access publications and conferences to reflect a more inclusive collection. Also, make sure to include opposing views (and not just supporting evidence).

Source: Grant, Maria J., and Andrew Booth. “A Typology of Reviews: An Analysis of 14 Review Types and Associated Methodologies.” Health Information & Libraries Journal, vol. 26, no. 2, June 2009, pp. 91–108. Wiley Online Library, doi:10.1111/j.1471-1842.2009.00848.x.

Meryl Brodsky : Communication and Information Studies

Hannah Chapman Tripp : Biology, Neuroscience

Carolyn Cunningham : Human Development & Family Sciences, Psychology, Sociology

Larayne Dallas : Engineering

Janelle Hedstrom : Special Education, Curriculum & Instruction, Ed Leadership & Policy ​

Susan Macicak : Linguistics

Imelda Vetter : Dell Medical School

For help in other subject areas, please see the guide to library specialists by subject .

Periodically, UT Libraries runs a workshop covering the basics and library support for literature reviews. While we try to offer these once per academic year, we find providing the recording to be helpful to community members who have missed the session. Following is the most recent recording of the workshop, Conducting a Literature Review. To view the recording, a UT login is required.

• October 26, 2022 recording
• Last Updated: Oct 26, 2022 2:49 PM
• URL: https://guides.lib.utexas.edu/literaturereviews

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• 04 December 2020
• Correction 09 December 2020

How to write a superb literature review

Andy Tay is a freelance writer based in Singapore.

You can also search for this author in PubMed   Google Scholar

Literature reviews are important resources for scientists. They provide historical context for a field while offering opinions on its future trajectory. Creating them can provide inspiration for one’s own research, as well as some practice in writing. But few scientists are trained in how to write a review — or in what constitutes an excellent one. Even picking the appropriate software to use can be an involved decision (see ‘Tools and techniques’). So Nature asked editors and working scientists with well-cited reviews for their tips.

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doi: https://doi.org/10.1038/d41586-020-03422-x

Interviews have been edited for length and clarity.

Updates & Corrections

Correction 09 December 2020 : An earlier version of the tables in this article included some incorrect details about the programs Zotero, Endnote and Manubot. These have now been corrected.

Hsing, I.-M., Xu, Y. & Zhao, W. Electroanalysis 19 , 755–768 (2007).

Article   Google Scholar  

Ledesma, H. A. et al. Nature Nanotechnol. 14 , 645–657 (2019).

Article   PubMed   Google Scholar  

Brahlek, M., Koirala, N., Bansal, N. & Oh, S. Solid State Commun. 215–216 , 54–62 (2015).

Choi, Y. & Lee, S. Y. Nature Rev. Chem . https://doi.org/10.1038/s41570-020-00221-w (2020).

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How To Write An A-Grade Literature Review

3 straightforward steps (with examples) + free template.

By: Derek Jansen (MBA) | Expert Reviewed By: Dr. Eunice Rautenbach | October 2019

Quality research is about building onto the existing work of others , “standing on the shoulders of giants”, as Newton put it. The literature review chapter of your dissertation, thesis or research project is where you synthesise this prior work and lay the theoretical foundation for your own research.

Long story short, this chapter is a pretty big deal, which is why you want to make sure you get it right . In this post, I’ll show you exactly how to write a literature review in three straightforward steps, so you can conquer this vital chapter (the smart way).

Overview: The Literature Review Process

• Understanding the “ why “
• Finding the relevant literature
• Cataloguing and synthesising the information
• Outlining & writing up your literature review
• Example of a literature review

But first, the “why”…

Before we unpack how to write the literature review chapter, we’ve got to look at the why . To put it bluntly, if you don’t understand the function and purpose of the literature review process, there’s no way you can pull it off well. So, what exactly is the purpose of the literature review?

Well, there are (at least) four core functions:

• For you to gain an understanding (and demonstrate this understanding) of where the research is at currently, what the key arguments and disagreements are.
• For you to identify the gap(s) in the literature and then use this as justification for your own research topic.
• To help you build a conceptual framework for empirical testing (if applicable to your research topic).
• To inform your methodological choices and help you source tried and tested questionnaires (for interviews ) and measurement instruments (for surveys ).

Most students understand the first point but don’t give any thought to the rest. To get the most from the literature review process, you must keep all four points front of mind as you review the literature (more on this shortly), or you’ll land up with a wonky foundation.

Okay – with the why out the way, let’s move on to the how . As mentioned above, writing your literature review is a process, which I’ll break down into three steps:

• Finding the most suitable literature
• Understanding , distilling and organising the literature
• Planning and writing up your literature review chapter

Importantly, you must complete steps one and two before you start writing up your chapter. I know it’s very tempting, but don’t try to kill two birds with one stone and write as you read. You’ll invariably end up wasting huge amounts of time re-writing and re-shaping, or you’ll just land up with a disjointed, hard-to-digest mess . Instead, you need to read first and distil the information, then plan and execute the writing.

Step 1: Find the relevant literature

Naturally, the first step in the literature review journey is to hunt down the existing research that’s relevant to your topic. While you probably already have a decent base of this from your research proposal , you need to expand on this substantially in the dissertation or thesis itself.

Essentially, you need to be looking for any existing literature that potentially helps you answer your research question (or develop it, if that’s not yet pinned down). There are numerous ways to find relevant literature, but I’ll cover my top four tactics here. I’d suggest combining all four methods to ensure that nothing slips past you:

Method 1 – Google Scholar Scrubbing

Google’s academic search engine, Google Scholar , is a great starting point as it provides a good high-level view of the relevant journal articles for whatever keyword you throw at it. Most valuably, it tells you how many times each article has been cited, which gives you an idea of how credible (or at least, popular) it is. Some articles will be free to access, while others will require an account, which brings us to the next method.

Method 2 – University Database Scrounging

Generally, universities provide students with access to an online library, which provides access to many (but not all) of the major journals.

So, if you find an article using Google Scholar that requires paid access (which is quite likely), search for that article in your university’s database – if it’s listed there, you’ll have access. Note that, generally, the search engine capabilities of these databases are poor, so make sure you search for the exact article name, or you might not find it.

Method 3 – Journal Article Snowballing

At the end of every academic journal article, you’ll find a list of references. As with any academic writing, these references are the building blocks of the article, so if the article is relevant to your topic, there’s a good chance a portion of the referenced works will be too. Do a quick scan of the titles and see what seems relevant, then search for the relevant ones in your university’s database.

Method 4 – Dissertation Scavenging

Similar to Method 3 above, you can leverage other students’ dissertations. All you have to do is skim through literature review chapters of existing dissertations related to your topic and you’ll find a gold mine of potential literature. Usually, your university will provide you with access to previous students’ dissertations, but you can also find a much larger selection in the following databases:

• Open Access Theses & Dissertations
• Stanford SearchWorks

Keep in mind that dissertations and theses are not as academically sound as published, peer-reviewed journal articles (because they’re written by students, not professionals), so be sure to check the credibility of any sources you find using this method. You can do this by assessing the citation count of any given article in Google Scholar. If you need help with assessing the credibility of any article, or with finding relevant research in general, you can chat with one of our Research Specialists .

Alright – with a good base of literature firmly under your belt, it’s time to move onto the next step.

Need a helping hand?

Step 2: Log, catalogue and synthesise

Once you’ve built a little treasure trove of articles, it’s time to get reading and start digesting the information – what does it all mean?

While I present steps one and two (hunting and digesting) as sequential, in reality, it’s more of a back-and-forth tango – you’ll read a little , then have an idea, spot a new citation, or a new potential variable, and then go back to searching for articles. This is perfectly natural – through the reading process, your thoughts will develop , new avenues might crop up, and directional adjustments might arise. This is, after all, one of the main purposes of the literature review process (i.e. to familiarise yourself with the current state of research in your field).

As you’re working through your treasure chest, it’s essential that you simultaneously start organising the information. There are three aspects to this:

• Logging reference information
• Building an organised catalogue
• Distilling and synthesising the information

I’ll discuss each of these below:

2.1 – Log the reference information

As you read each article, you should add it to your reference management software. I usually recommend Mendeley for this purpose (see the Mendeley 101 video below), but you can use whichever software you’re comfortable with. Most importantly, make sure you load EVERY article you read into your reference manager, even if it doesn’t seem very relevant at the time.

2.2 – Build an organised catalogue

In the beginning, you might feel confident that you can remember who said what, where, and what their main arguments were. Trust me, you won’t. If you do a thorough review of the relevant literature (as you must!), you’re going to read many, many articles, and it’s simply impossible to remember who said what, when, and in what context . Also, without the bird’s eye view that a catalogue provides, you’ll miss connections between various articles, and have no view of how the research developed over time. Simply put, it’s essential to build your own catalogue of the literature.

I would suggest using Excel to build your catalogue, as it allows you to run filters, colour code and sort – all very useful when your list grows large (which it will). How you lay your spreadsheet out is up to you, but I’d suggest you have the following columns (at minimum):

• Author, date, title – Start with three columns containing this core information. This will make it easy for you to search for titles with certain words, order research by date, or group by author.
• Categories or keywords – You can either create multiple columns, one for each category/theme and then tick the relevant categories, or you can have one column with keywords.
• Key arguments/points – Use this column to succinctly convey the essence of the article, the key arguments and implications thereof for your research.
• Context – Note the socioeconomic context in which the research was undertaken. For example, US-based, respondents aged 25-35, lower- income, etc. This will be useful for making an argument about gaps in the research.
• Methodology – Note which methodology was used and why. Also, note any issues you feel arise due to the methodology. Again, you can use this to make an argument about gaps in the research.
• Quotations – Note down any quoteworthy lines you feel might be useful later.
• Notes – Make notes about anything not already covered. For example, linkages to or disagreements with other theories, questions raised but unanswered, shortcomings or limitations, and so forth.

If you’d like, you can try out our free catalog template here (see screenshot below).

2.3 – Digest and synthesise

Most importantly, as you work through the literature and build your catalogue, you need to synthesise all the information in your own mind – how does it all fit together? Look for links between the various articles and try to develop a bigger picture view of the state of the research. Some important questions to ask yourself are:

• What answers does the existing research provide to my own research questions ?
• Which points do the researchers agree (and disagree) on?
• How has the research developed over time?
• Where do the gaps in the current research lie?

To help you develop a big-picture view and synthesise all the information, you might find mind mapping software such as Freemind useful. Alternatively, if you’re a fan of physical note-taking, investing in a large whiteboard might work for you.

Step 3: Outline and write it up!

Once you’re satisfied that you have digested and distilled all the relevant literature in your mind, it’s time to put pen to paper (or rather, fingers to keyboard). There are two steps here – outlining and writing:

3.1 – Draw up your outline

Having spent so much time reading, it might be tempting to just start writing up without a clear structure in mind. However, it’s critically important to decide on your structure and develop a detailed outline before you write anything. Your literature review chapter needs to present a clear, logical and an easy to follow narrative – and that requires some planning. Don’t try to wing it!

Naturally, you won’t always follow the plan to the letter, but without a detailed outline, you’re more than likely going to end up with a disjointed pile of waffle , and then you’re going to spend a far greater amount of time re-writing, hacking and patching. The adage, “measure twice, cut once” is very suitable here.

In terms of structure, the first decision you’ll have to make is whether you’ll lay out your review thematically (into themes) or chronologically (by date/period). The right choice depends on your topic, research objectives and research questions, which we discuss in this article .

Once that’s decided, you need to draw up an outline of your entire chapter in bullet point format. Try to get as detailed as possible, so that you know exactly what you’ll cover where, how each section will connect to the next, and how your entire argument will develop throughout the chapter. Also, at this stage, it’s a good idea to allocate rough word count limits for each section, so that you can identify word count problems before you’ve spent weeks or months writing!

PS – check out our free literature review chapter template…

3.2 – Get writing

With a detailed outline at your side, it’s time to start writing up (finally!). At this stage, it’s common to feel a bit of writer’s block and find yourself procrastinating under the pressure of finally having to put something on paper. To help with this, remember that the objective of the first draft is not perfection – it’s simply to get your thoughts out of your head and onto paper, after which you can refine them. The structure might change a little, the word count allocations might shift and shuffle, and you might add or remove a section – that’s all okay. Don’t worry about all this on your first draft – just get your thoughts down on paper.

Once you’ve got a full first draft (however rough it may be), step away from it for a day or two (longer if you can) and then come back at it with fresh eyes. Pay particular attention to the flow and narrative – does it fall fit together and flow from one section to another smoothly? Now’s the time to try to improve the linkage from each section to the next, tighten up the writing to be more concise, trim down word count and sand it down into a more digestible read.

Once you’ve done that, give your writing to a friend or colleague who is not a subject matter expert and ask them if they understand the overall discussion. The best way to assess this is to ask them to explain the chapter back to you. This technique will give you a strong indication of which points were clearly communicated and which weren’t. If you’re working with Grad Coach, this is a good time to have your Research Specialist review your chapter.

Finally, tighten it up and send it off to your supervisor for comment. Some might argue that you should be sending your work to your supervisor sooner than this (indeed your university might formally require this), but in my experience, supervisors are extremely short on time (and often patience), so, the more refined your chapter is, the less time they’ll waste on addressing basic issues (which you know about already) and the more time they’ll spend on valuable feedback that will increase your mark-earning potential.

Literature Review Example

In the video below, we unpack an actual literature review so that you can see how all the core components come together in reality.

Let’s Recap

In this post, we’ve covered how to research and write up a high-quality literature review chapter. Let’s do a quick recap of the key takeaways:

• It is essential to understand the WHY of the literature review before you read or write anything. Make sure you understand the 4 core functions of the process.
• The first step is to hunt down the relevant literature . You can do this using Google Scholar, your university database, the snowballing technique and by reviewing other dissertations and theses.
• Next, you need to log all the articles in your reference manager , build your own catalogue of literature and synthesise all the research.
• Following that, you need to develop a detailed outline of your entire chapter – the more detail the better. Don’t start writing without a clear outline (on paper, not in your head!)
• Write up your first draft in rough form – don’t aim for perfection. Remember, done beats perfect.
• Refine your second draft and get a layman’s perspective on it . Then tighten it up and submit it to your supervisor.

Psst… there’s more!

This post is an extract from our bestselling short course, Literature Review Bootcamp . If you want to work smart, you don't want to miss this .

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38 Comments

Thank you very much. This page is an eye opener and easy to comprehend.

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Keep it up!

You’re welcome, Yinka. Thank you for the kind words. All the best writing your literature review.

Thank you for a very useful literature review session. Although I am doing most of the steps…it being my first masters an Mphil is a self study and one not sure you are on the right track. I have an amazing supervisor but one also knows they are super busy. So not wanting to bother on the minutae. Thank you.

You’re most welcome, Renee. Good luck with your literature review 🙂

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Thank you for this whole literature writing review.You have simplified the process.

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You’re welcome, Maithe. Good luck writing your literature review 🙂

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Good morning scholar. I’m delighted coming to know you even before the commencement of my dissertation which hopefully is expected in not more than six months from now. I would love to engage my study under your guidance from the beginning to the end. I love to know how to do good job

Thank you so much Derek for such useful information on writing up a good literature review. I am at a stage where I need to start writing my one. My proposal was accepted late last year but I honestly did not know where to start

Like the name of your YouTube implies you are GRAD (great,resource person, about dissertation). In short you are smart enough in coaching research work.

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Very comprehensive and eye opener for me as beginner in postgraduate study. Well explained and easy to understand. Appreciate and good reference in guiding me in my research journey. Thank you

Thank you. I requested to download the free literature review template, however, your website wouldn’t allow me to complete the request or complete a download. May I request that you email me the free template? Thank you.

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Libraries | Research Guides

Literature reviews, what is a literature review, learning more about how to do a literature review.

• Planning the Review
• The Research Question
• Choosing Where to Search
• Organizing the Review
• Writing the Review

A literature review is a review and synthesis of existing research on a topic or research question. A literature review is meant to analyze the scholarly literature, make connections across writings and identify strengths, weaknesses, trends, and missing conversations. A literature review should address different aspects of a topic as it relates to your research question. A literature review goes beyond a description or summary of the literature you have read. 

• Sage Research Methods Core Collection This link opens in a new window SAGE Research Methods supports research at all levels by providing material to guide users through every step of the research process. SAGE Research Methods is the ultimate methods library with more than 1000 books, reference works, journal articles, and instructional videos by world-leading academics from across the social sciences, including the largest collection of qualitative methods books available online from any scholarly publisher. – Publisher

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• Last Updated: May 2, 2024 10:39 AM
• URL: https://libguides.northwestern.edu/literaturereviews

• USC Libraries
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Organizing Your Social Sciences Research Paper

• 5. The Literature Review
• Purpose of Guide
• Design Flaws to Avoid
• Independent and Dependent Variables
• Glossary of Research Terms
• Reading Research Effectively
• Narrowing a Topic Idea
• Broadening a Topic Idea
• Extending the Timeliness of a Topic Idea
• Academic Writing Style
• Applying Critical Thinking
• Choosing a Title
• Making an Outline
• Paragraph Development
• Research Process Video Series
• Executive Summary
• The C.A.R.S. Model
• Background Information
• The Research Problem/Question
• Theoretical Framework
• Citation Tracking
• Content Alert Services
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• Primary Sources
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• Scholarly vs. Popular Publications
• Qualitative Methods
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• Insiderness
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• Common Grammar Mistakes
• Writing Concisely
• Avoiding Plagiarism
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• Further Readings
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• Bibliography

A literature review surveys prior research published in books, scholarly articles, and any other sources relevant to a particular issue, area of research, or theory, and by so doing, provides a description, summary, and critical evaluation of these works in relation to the research problem being investigated. Literature reviews are designed to provide an overview of sources you have used in researching a particular topic and to demonstrate to your readers how your research fits within existing scholarship about the topic.

Fink, Arlene. Conducting Research Literature Reviews: From the Internet to Paper . Fourth edition. Thousand Oaks, CA: SAGE, 2014.

Importance of a Good Literature Review

A literature review may consist of simply a summary of key sources, but in the social sciences, a literature review usually has an organizational pattern and combines both summary and synthesis, often within specific conceptual categories . A summary is a recap of the important information of the source, but a synthesis is a re-organization, or a reshuffling, of that information in a way that informs how you are planning to investigate a research problem. The analytical features of a literature review might:

• Give a new interpretation of old material or combine new with old interpretations,
• Trace the intellectual progression of the field, including major debates,
• Depending on the situation, evaluate the sources and advise the reader on the most pertinent or relevant research, or
• Usually in the conclusion of a literature review, identify where gaps exist in how a problem has been researched to date.

Given this, the purpose of a literature review is to:

• Place each work in the context of its contribution to understanding the research problem being studied.
• Describe the relationship of each work to the others under consideration.
• Identify new ways to interpret prior research.
• Reveal any gaps that exist in the literature.
• Resolve conflicts amongst seemingly contradictory previous studies.
• Identify areas of prior scholarship to prevent duplication of effort.
• Point the way in fulfilling a need for additional research.
• Locate your own research within the context of existing literature [very important].

Fink, Arlene. Conducting Research Literature Reviews: From the Internet to Paper. 2nd ed. Thousand Oaks, CA: Sage, 2005; Hart, Chris. Doing a Literature Review: Releasing the Social Science Research Imagination . Thousand Oaks, CA: Sage Publications, 1998; Jesson, Jill. Doing Your Literature Review: Traditional and Systematic Techniques . Los Angeles, CA: SAGE, 2011; Knopf, Jeffrey W. "Doing a Literature Review." PS: Political Science and Politics 39 (January 2006): 127-132; Ridley, Diana. The Literature Review: A Step-by-Step Guide for Students . 2nd ed. Los Angeles, CA: SAGE, 2012.

Types of Literature Reviews

It is important to think of knowledge in a given field as consisting of three layers. First, there are the primary studies that researchers conduct and publish. Second are the reviews of those studies that summarize and offer new interpretations built from and often extending beyond the primary studies. Third, there are the perceptions, conclusions, opinion, and interpretations that are shared informally among scholars that become part of the body of epistemological traditions within the field.

In composing a literature review, it is important to note that it is often this third layer of knowledge that is cited as "true" even though it often has only a loose relationship to the primary studies and secondary literature reviews. Given this, while literature reviews are designed to provide an overview and synthesis of pertinent sources you have explored, there are a number of approaches you could adopt depending upon the type of analysis underpinning your study.

Argumentative Review This form examines literature selectively in order to support or refute an argument, deeply embedded assumption, or philosophical problem already established in the literature. The purpose is to develop a body of literature that establishes a contrarian viewpoint. Given the value-laden nature of some social science research [e.g., educational reform; immigration control], argumentative approaches to analyzing the literature can be a legitimate and important form of discourse. However, note that they can also introduce problems of bias when they are used to make summary claims of the sort found in systematic reviews [see below].

Integrative Review Considered a form of research that reviews, critiques, and synthesizes representative literature on a topic in an integrated way such that new frameworks and perspectives on the topic are generated. The body of literature includes all studies that address related or identical hypotheses or research problems. A well-done integrative review meets the same standards as primary research in regard to clarity, rigor, and replication. This is the most common form of review in the social sciences.

Historical Review Few things rest in isolation from historical precedent. Historical literature reviews focus on examining research throughout a period of time, often starting with the first time an issue, concept, theory, phenomena emerged in the literature, then tracing its evolution within the scholarship of a discipline. The purpose is to place research in a historical context to show familiarity with state-of-the-art developments and to identify the likely directions for future research.

Methodological Review A review does not always focus on what someone said [findings], but how they came about saying what they say [method of analysis]. Reviewing methods of analysis provides a framework of understanding at different levels [i.e. those of theory, substantive fields, research approaches, and data collection and analysis techniques], how researchers draw upon a wide variety of knowledge ranging from the conceptual level to practical documents for use in fieldwork in the areas of ontological and epistemological consideration, quantitative and qualitative integration, sampling, interviewing, data collection, and data analysis. This approach helps highlight ethical issues which you should be aware of and consider as you go through your own study.

Systematic Review This form consists of an overview of existing evidence pertinent to a clearly formulated research question, which uses pre-specified and standardized methods to identify and critically appraise relevant research, and to collect, report, and analyze data from the studies that are included in the review. The goal is to deliberately document, critically evaluate, and summarize scientifically all of the research about a clearly defined research problem . Typically it focuses on a very specific empirical question, often posed in a cause-and-effect form, such as "To what extent does A contribute to B?" This type of literature review is primarily applied to examining prior research studies in clinical medicine and allied health fields, but it is increasingly being used in the social sciences.

Theoretical Review The purpose of this form is to examine the corpus of theory that has accumulated in regard to an issue, concept, theory, phenomena. The theoretical literature review helps to establish what theories already exist, the relationships between them, to what degree the existing theories have been investigated, and to develop new hypotheses to be tested. Often this form is used to help establish a lack of appropriate theories or reveal that current theories are inadequate for explaining new or emerging research problems. The unit of analysis can focus on a theoretical concept or a whole theory or framework.

NOTE : Most often the literature review will incorporate some combination of types. For example, a review that examines literature supporting or refuting an argument, assumption, or philosophical problem related to the research problem will also need to include writing supported by sources that establish the history of these arguments in the literature.

Baumeister, Roy F. and Mark R. Leary. "Writing Narrative Literature Reviews."  Review of General Psychology 1 (September 1997): 311-320; Mark R. Fink, Arlene. Conducting Research Literature Reviews: From the Internet to Paper . 2nd ed. Thousand Oaks, CA: Sage, 2005; Hart, Chris. Doing a Literature Review: Releasing the Social Science Research Imagination . Thousand Oaks, CA: Sage Publications, 1998; Kennedy, Mary M. "Defining a Literature." Educational Researcher 36 (April 2007): 139-147; Petticrew, Mark and Helen Roberts. Systematic Reviews in the Social Sciences: A Practical Guide . Malden, MA: Blackwell Publishers, 2006; Torracro, Richard. "Writing Integrative Literature Reviews: Guidelines and Examples." Human Resource Development Review 4 (September 2005): 356-367; Rocco, Tonette S. and Maria S. Plakhotnik. "Literature Reviews, Conceptual Frameworks, and Theoretical Frameworks: Terms, Functions, and Distinctions." Human Ressource Development Review 8 (March 2008): 120-130; Sutton, Anthea. Systematic Approaches to a Successful Literature Review . Los Angeles, CA: Sage Publications, 2016.

Structure and Writing Style

I.  Thinking About Your Literature Review

The structure of a literature review should include the following in support of understanding the research problem :

• An overview of the subject, issue, or theory under consideration, along with the objectives of the literature review,
• Division of works under review into themes or categories [e.g. works that support a particular position, those against, and those offering alternative approaches entirely],
• An explanation of how each work is similar to and how it varies from the others,
• Conclusions as to which pieces are best considered in their argument, are most convincing of their opinions, and make the greatest contribution to the understanding and development of their area of research.

The critical evaluation of each work should consider :

• Provenance -- what are the author's credentials? Are the author's arguments supported by evidence [e.g. primary historical material, case studies, narratives, statistics, recent scientific findings]?
• Methodology -- were the techniques used to identify, gather, and analyze the data appropriate to addressing the research problem? Was the sample size appropriate? Were the results effectively interpreted and reported?
• Objectivity -- is the author's perspective even-handed or prejudicial? Is contrary data considered or is certain pertinent information ignored to prove the author's point?
• Persuasiveness -- which of the author's theses are most convincing or least convincing?
• Validity -- are the author's arguments and conclusions convincing? Does the work ultimately contribute in any significant way to an understanding of the subject?

II.  Development of the Literature Review

Four Basic Stages of Writing 1.  Problem formulation -- which topic or field is being examined and what are its component issues? 2.  Literature search -- finding materials relevant to the subject being explored. 3.  Data evaluation -- determining which literature makes a significant contribution to the understanding of the topic. 4.  Analysis and interpretation -- discussing the findings and conclusions of pertinent literature.

Consider the following issues before writing the literature review: Clarify If your assignment is not specific about what form your literature review should take, seek clarification from your professor by asking these questions: 1.  Roughly how many sources would be appropriate to include? 2.  What types of sources should I review (books, journal articles, websites; scholarly versus popular sources)? 3.  Should I summarize, synthesize, or critique sources by discussing a common theme or issue? 4.  Should I evaluate the sources in any way beyond evaluating how they relate to understanding the research problem? 5.  Should I provide subheadings and other background information, such as definitions and/or a history? Find Models Use the exercise of reviewing the literature to examine how authors in your discipline or area of interest have composed their literature review sections. Read them to get a sense of the types of themes you might want to look for in your own research or to identify ways to organize your final review. The bibliography or reference section of sources you've already read, such as required readings in the course syllabus, are also excellent entry points into your own research. Narrow the Topic The narrower your topic, the easier it will be to limit the number of sources you need to read in order to obtain a good survey of relevant resources. Your professor will probably not expect you to read everything that's available about the topic, but you'll make the act of reviewing easier if you first limit scope of the research problem. A good strategy is to begin by searching the USC Libraries Catalog for recent books about the topic and review the table of contents for chapters that focuses on specific issues. You can also review the indexes of books to find references to specific issues that can serve as the focus of your research. For example, a book surveying the history of the Israeli-Palestinian conflict may include a chapter on the role Egypt has played in mediating the conflict, or look in the index for the pages where Egypt is mentioned in the text. Consider Whether Your Sources are Current Some disciplines require that you use information that is as current as possible. This is particularly true in disciplines in medicine and the sciences where research conducted becomes obsolete very quickly as new discoveries are made. However, when writing a review in the social sciences, a survey of the history of the literature may be required. In other words, a complete understanding the research problem requires you to deliberately examine how knowledge and perspectives have changed over time. Sort through other current bibliographies or literature reviews in the field to get a sense of what your discipline expects. You can also use this method to explore what is considered by scholars to be a "hot topic" and what is not.

III.  Ways to Organize Your Literature Review

Chronology of Events If your review follows the chronological method, you could write about the materials according to when they were published. This approach should only be followed if a clear path of research building on previous research can be identified and that these trends follow a clear chronological order of development. For example, a literature review that focuses on continuing research about the emergence of German economic power after the fall of the Soviet Union. By Publication Order your sources by publication chronology, then, only if the order demonstrates a more important trend. For instance, you could order a review of literature on environmental studies of brown fields if the progression revealed, for example, a change in the soil collection practices of the researchers who wrote and/or conducted the studies. Thematic [“conceptual categories”] A thematic literature review is the most common approach to summarizing prior research in the social and behavioral sciences. Thematic reviews are organized around a topic or issue, rather than the progression of time, although the progression of time may still be incorporated into a thematic review. For example, a review of the Internet’s impact on American presidential politics could focus on the development of online political satire. While the study focuses on one topic, the Internet’s impact on American presidential politics, it would still be organized chronologically reflecting technological developments in media. The difference in this example between a "chronological" and a "thematic" approach is what is emphasized the most: themes related to the role of the Internet in presidential politics. Note that more authentic thematic reviews tend to break away from chronological order. A review organized in this manner would shift between time periods within each section according to the point being made. Methodological A methodological approach focuses on the methods utilized by the researcher. For the Internet in American presidential politics project, one methodological approach would be to look at cultural differences between the portrayal of American presidents on American, British, and French websites. Or the review might focus on the fundraising impact of the Internet on a particular political party. A methodological scope will influence either the types of documents in the review or the way in which these documents are discussed.

Other Sections of Your Literature Review Once you've decided on the organizational method for your literature review, the sections you need to include in the paper should be easy to figure out because they arise from your organizational strategy. In other words, a chronological review would have subsections for each vital time period; a thematic review would have subtopics based upon factors that relate to the theme or issue. However, sometimes you may need to add additional sections that are necessary for your study, but do not fit in the organizational strategy of the body. What other sections you include in the body is up to you. However, only include what is necessary for the reader to locate your study within the larger scholarship about the research problem.

Here are examples of other sections, usually in the form of a single paragraph, you may need to include depending on the type of review you write:

• Current Situation : Information necessary to understand the current topic or focus of the literature review.
• Sources Used : Describes the methods and resources [e.g., databases] you used to identify the literature you reviewed.
• History : The chronological progression of the field, the research literature, or an idea that is necessary to understand the literature review, if the body of the literature review is not already a chronology.
• Selection Methods : Criteria you used to select (and perhaps exclude) sources in your literature review. For instance, you might explain that your review includes only peer-reviewed [i.e., scholarly] sources.
• Standards : Description of the way in which you present your information.
• Questions for Further Research : What questions about the field has the review sparked? How will you further your research as a result of the review?

IV.  Writing Your Literature Review

Once you've settled on how to organize your literature review, you're ready to write each section. When writing your review, keep in mind these issues.

Use Evidence A literature review section is, in this sense, just like any other academic research paper. Your interpretation of the available sources must be backed up with evidence [citations] that demonstrates that what you are saying is valid. Be Selective Select only the most important points in each source to highlight in the review. The type of information you choose to mention should relate directly to the research problem, whether it is thematic, methodological, or chronological. Related items that provide additional information, but that are not key to understanding the research problem, can be included in a list of further readings . Use Quotes Sparingly Some short quotes are appropriate if you want to emphasize a point, or if what an author stated cannot be easily paraphrased. Sometimes you may need to quote certain terminology that was coined by the author, is not common knowledge, or taken directly from the study. Do not use extensive quotes as a substitute for using your own words in reviewing the literature. Summarize and Synthesize Remember to summarize and synthesize your sources within each thematic paragraph as well as throughout the review. Recapitulate important features of a research study, but then synthesize it by rephrasing the study's significance and relating it to your own work and the work of others. Keep Your Own Voice While the literature review presents others' ideas, your voice [the writer's] should remain front and center. For example, weave references to other sources into what you are writing but maintain your own voice by starting and ending the paragraph with your own ideas and wording. Use Caution When Paraphrasing When paraphrasing a source that is not your own, be sure to represent the author's information or opinions accurately and in your own words. Even when paraphrasing an author’s work, you still must provide a citation to that work.

V.  Common Mistakes to Avoid

These are the most common mistakes made in reviewing social science research literature.

• Sources in your literature review do not clearly relate to the research problem;
• You do not take sufficient time to define and identify the most relevant sources to use in the literature review related to the research problem;
• Relies exclusively on secondary analytical sources rather than including relevant primary research studies or data;
• Uncritically accepts another researcher's findings and interpretations as valid, rather than examining critically all aspects of the research design and analysis;
• Does not describe the search procedures that were used in identifying the literature to review;
• Reports isolated statistical results rather than synthesizing them in chi-squared or meta-analytic methods; and,
• Only includes research that validates assumptions and does not consider contrary findings and alternative interpretations found in the literature.

Cook, Kathleen E. and Elise Murowchick. “Do Literature Review Skills Transfer from One Course to Another?” Psychology Learning and Teaching 13 (March 2014): 3-11; Fink, Arlene. Conducting Research Literature Reviews: From the Internet to Paper . 2nd ed. Thousand Oaks, CA: Sage, 2005; Hart, Chris. Doing a Literature Review: Releasing the Social Science Research Imagination . Thousand Oaks, CA: Sage Publications, 1998; Jesson, Jill. Doing Your Literature Review: Traditional and Systematic Techniques . London: SAGE, 2011; Literature Review Handout. Online Writing Center. Liberty University; Literature Reviews. The Writing Center. University of North Carolina; Onwuegbuzie, Anthony J. and Rebecca Frels. Seven Steps to a Comprehensive Literature Review: A Multimodal and Cultural Approach . Los Angeles, CA: SAGE, 2016; Ridley, Diana. The Literature Review: A Step-by-Step Guide for Students . 2nd ed. Los Angeles, CA: SAGE, 2012; Randolph, Justus J. “A Guide to Writing the Dissertation Literature Review." Practical Assessment, Research, and Evaluation. vol. 14, June 2009; Sutton, Anthea. Systematic Approaches to a Successful Literature Review . Los Angeles, CA: Sage Publications, 2016; Taylor, Dena. The Literature Review: A Few Tips On Conducting It. University College Writing Centre. University of Toronto; Writing a Literature Review. Academic Skills Centre. University of Canberra.

Writing Tip

Break Out of Your Disciplinary Box!

Thinking interdisciplinarily about a research problem can be a rewarding exercise in applying new ideas, theories, or concepts to an old problem. For example, what might cultural anthropologists say about the continuing conflict in the Middle East? In what ways might geographers view the need for better distribution of social service agencies in large cities than how social workers might study the issue? You don’t want to substitute a thorough review of core research literature in your discipline for studies conducted in other fields of study. However, particularly in the social sciences, thinking about research problems from multiple vectors is a key strategy for finding new solutions to a problem or gaining a new perspective. Consult with a librarian about identifying research databases in other disciplines; almost every field of study has at least one comprehensive database devoted to indexing its research literature.

Frodeman, Robert. The Oxford Handbook of Interdisciplinarity . New York: Oxford University Press, 2010.

Another Writing Tip

Don't Just Review for Content!

While conducting a review of the literature, maximize the time you devote to writing this part of your paper by thinking broadly about what you should be looking for and evaluating. Review not just what scholars are saying, but how are they saying it. Some questions to ask:

• How are they organizing their ideas?
• What methods have they used to study the problem?
• What theories have been used to explain, predict, or understand their research problem?
• What sources have they cited to support their conclusions?
• How have they used non-textual elements [e.g., charts, graphs, figures, etc.] to illustrate key points?

When you begin to write your literature review section, you'll be glad you dug deeper into how the research was designed and constructed because it establishes a means for developing more substantial analysis and interpretation of the research problem.

Hart, Chris. Doing a Literature Review: Releasing the Social Science Research Imagination . Thousand Oaks, CA: Sage Publications, 1 998.

Yet Another Writing Tip

When Do I Know I Can Stop Looking and Move On?

Here are several strategies you can utilize to assess whether you've thoroughly reviewed the literature:

• Look for repeating patterns in the research findings . If the same thing is being said, just by different people, then this likely demonstrates that the research problem has hit a conceptual dead end. At this point consider: Does your study extend current research?  Does it forge a new path? Or, does is merely add more of the same thing being said?
• Look at sources the authors cite to in their work . If you begin to see the same researchers cited again and again, then this is often an indication that no new ideas have been generated to address the research problem.
• Search Google Scholar to identify who has subsequently cited leading scholars already identified in your literature review [see next sub-tab]. This is called citation tracking and there are a number of sources that can help you identify who has cited whom, particularly scholars from outside of your discipline. Here again, if the same authors are being cited again and again, this may indicate no new literature has been written on the topic.

Onwuegbuzie, Anthony J. and Rebecca Frels. Seven Steps to a Comprehensive Literature Review: A Multimodal and Cultural Approach . Los Angeles, CA: Sage, 2016; Sutton, Anthea. Systematic Approaches to a Successful Literature Review . Los Angeles, CA: Sage Publications, 2016.

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How to write a good scientific review article

Affiliation.

• 1 The FEBS Journal Editorial Office, Cambridge, UK.
• PMID: 35792782
• DOI: 10.1111/febs.16565

Literature reviews are valuable resources for the scientific community. With research accelerating at an unprecedented speed in recent years and more and more original papers being published, review articles have become increasingly important as a means to keep up to date with developments in a particular area of research. A good review article provides readers with an in-depth understanding of a field and highlights key gaps and challenges to address with future research. Writing a review article also helps to expand the writer's knowledge of their specialist area and to develop their analytical and communication skills, amongst other benefits. Thus, the importance of building review-writing into a scientific career cannot be overstated. In this instalment of The FEBS Journal's Words of Advice series, I provide detailed guidance on planning and writing an informative and engaging literature review.

© 2022 Federation of European Biochemical Societies.

Publication types

• Review Literature as Topic*

Literature Reviews

What this handout is about.

This handout will explain what literature reviews are and offer insights into the form and construction of literature reviews in the humanities, social sciences, and sciences.

Introduction

OK. You’ve got to write a literature review. You dust off a novel and a book of poetry, settle down in your chair, and get ready to issue a “thumbs up” or “thumbs down” as you leaf through the pages. “Literature review” done. Right?

Wrong! The “literature” of a literature review refers to any collection of materials on a topic, not necessarily the great literary texts of the world. “Literature” could be anything from a set of government pamphlets on British colonial methods in Africa to scholarly articles on the treatment of a torn ACL. And a review does not necessarily mean that your reader wants you to give your personal opinion on whether or not you liked these sources.

What is a literature review, then?

A literature review discusses published information in a particular subject area, and sometimes information in a particular subject area within a certain time period.

A literature review can be just a simple summary of the sources, but it usually has an organizational pattern and combines both summary and synthesis. A summary is a recap of the important information of the source, but a synthesis is a re-organization, or a reshuffling, of that information. It might give a new interpretation of old material or combine new with old interpretations. Or it might trace the intellectual progression of the field, including major debates. And depending on the situation, the literature review may evaluate the sources and advise the reader on the most pertinent or relevant.

But how is a literature review different from an academic research paper?

The main focus of an academic research paper is to develop a new argument, and a research paper is likely to contain a literature review as one of its parts. In a research paper, you use the literature as a foundation and as support for a new insight that you contribute. The focus of a literature review, however, is to summarize and synthesize the arguments and ideas of others without adding new contributions.

Why do we write literature reviews?

Literature reviews provide you with a handy guide to a particular topic. If you have limited time to conduct research, literature reviews can give you an overview or act as a stepping stone. For professionals, they are useful reports that keep them up to date with what is current in the field. For scholars, the depth and breadth of the literature review emphasizes the credibility of the writer in his or her field. Literature reviews also provide a solid background for a research paper’s investigation. Comprehensive knowledge of the literature of the field is essential to most research papers.

Who writes these things, anyway?

Literature reviews are written occasionally in the humanities, but mostly in the sciences and social sciences; in experiment and lab reports, they constitute a section of the paper. Sometimes a literature review is written as a paper in itself.

Let’s get to it! What should I do before writing the literature review?

If your assignment is not very specific, seek clarification from your instructor:

• Roughly how many sources should you include?
• What types of sources (books, journal articles, websites)?
• Should you summarize, synthesize, or critique your sources by discussing a common theme or issue?
• Should you evaluate your sources?
• Should you provide subheadings and other background information, such as definitions and/or a history?

Find models

Look for other literature reviews in your area of interest or in the discipline and read them to get a sense of the types of themes you might want to look for in your own research or ways to organize your final review. You can simply put the word “review” in your search engine along with your other topic terms to find articles of this type on the Internet or in an electronic database. The bibliography or reference section of sources you’ve already read are also excellent entry points into your own research.

Narrow your topic

There are hundreds or even thousands of articles and books on most areas of study. The narrower your topic, the easier it will be to limit the number of sources you need to read in order to get a good survey of the material. Your instructor will probably not expect you to read everything that’s out there on the topic, but you’ll make your job easier if you first limit your scope.

Keep in mind that UNC Libraries have research guides and to databases relevant to many fields of study. You can reach out to the subject librarian for a consultation: https://library.unc.edu/support/consultations/ .

And don’t forget to tap into your professor’s (or other professors’) knowledge in the field. Ask your professor questions such as: “If you had to read only one book from the 90’s on topic X, what would it be?” Questions such as this help you to find and determine quickly the most seminal pieces in the field.

Consider whether your sources are current

Some disciplines require that you use information that is as current as possible. In the sciences, for instance, treatments for medical problems are constantly changing according to the latest studies. Information even two years old could be obsolete. However, if you are writing a review in the humanities, history, or social sciences, a survey of the history of the literature may be what is needed, because what is important is how perspectives have changed through the years or within a certain time period. Try sorting through some other current bibliographies or literature reviews in the field to get a sense of what your discipline expects. You can also use this method to consider what is currently of interest to scholars in this field and what is not.

Strategies for writing the literature review

Find a focus.

A literature review, like a term paper, is usually organized around ideas, not the sources themselves as an annotated bibliography would be organized. This means that you will not just simply list your sources and go into detail about each one of them, one at a time. No. As you read widely but selectively in your topic area, consider instead what themes or issues connect your sources together. Do they present one or different solutions? Is there an aspect of the field that is missing? How well do they present the material and do they portray it according to an appropriate theory? Do they reveal a trend in the field? A raging debate? Pick one of these themes to focus the organization of your review.

Convey it to your reader

A literature review may not have a traditional thesis statement (one that makes an argument), but you do need to tell readers what to expect. Try writing a simple statement that lets the reader know what is your main organizing principle. Here are a couple of examples:

The current trend in treatment for congestive heart failure combines surgery and medicine. More and more cultural studies scholars are accepting popular media as a subject worthy of academic consideration.

Consider organization

You’ve got a focus, and you’ve stated it clearly and directly. Now what is the most effective way of presenting the information? What are the most important topics, subtopics, etc., that your review needs to include? And in what order should you present them? Develop an organization for your review at both a global and local level:

First, cover the basic categories

Just like most academic papers, literature reviews also must contain at least three basic elements: an introduction or background information section; the body of the review containing the discussion of sources; and, finally, a conclusion and/or recommendations section to end the paper. The following provides a brief description of the content of each:

• Introduction: Gives a quick idea of the topic of the literature review, such as the central theme or organizational pattern.
• Body: Contains your discussion of sources and is organized either chronologically, thematically, or methodologically (see below for more information on each).
• Conclusions/Recommendations: Discuss what you have drawn from reviewing literature so far. Where might the discussion proceed?

Organizing the body

Once you have the basic categories in place, then you must consider how you will present the sources themselves within the body of your paper. Create an organizational method to focus this section even further.

To help you come up with an overall organizational framework for your review, consider the following scenario:

You’ve decided to focus your literature review on materials dealing with sperm whales. This is because you’ve just finished reading Moby Dick, and you wonder if that whale’s portrayal is really real. You start with some articles about the physiology of sperm whales in biology journals written in the 1980’s. But these articles refer to some British biological studies performed on whales in the early 18th century. So you check those out. Then you look up a book written in 1968 with information on how sperm whales have been portrayed in other forms of art, such as in Alaskan poetry, in French painting, or on whale bone, as the whale hunters in the late 19th century used to do. This makes you wonder about American whaling methods during the time portrayed in Moby Dick, so you find some academic articles published in the last five years on how accurately Herman Melville portrayed the whaling scene in his novel.

Now consider some typical ways of organizing the sources into a review:

• Chronological: If your review follows the chronological method, you could write about the materials above according to when they were published. For instance, first you would talk about the British biological studies of the 18th century, then about Moby Dick, published in 1851, then the book on sperm whales in other art (1968), and finally the biology articles (1980s) and the recent articles on American whaling of the 19th century. But there is relatively no continuity among subjects here. And notice that even though the sources on sperm whales in other art and on American whaling are written recently, they are about other subjects/objects that were created much earlier. Thus, the review loses its chronological focus.
• By publication: Order your sources by publication chronology, then, only if the order demonstrates a more important trend. For instance, you could order a review of literature on biological studies of sperm whales if the progression revealed a change in dissection practices of the researchers who wrote and/or conducted the studies.
• By trend: A better way to organize the above sources chronologically is to examine the sources under another trend, such as the history of whaling. Then your review would have subsections according to eras within this period. For instance, the review might examine whaling from pre-1600-1699, 1700-1799, and 1800-1899. Under this method, you would combine the recent studies on American whaling in the 19th century with Moby Dick itself in the 1800-1899 category, even though the authors wrote a century apart.
• Thematic: Thematic reviews of literature are organized around a topic or issue, rather than the progression of time. However, progression of time may still be an important factor in a thematic review. For instance, the sperm whale review could focus on the development of the harpoon for whale hunting. While the study focuses on one topic, harpoon technology, it will still be organized chronologically. The only difference here between a “chronological” and a “thematic” approach is what is emphasized the most: the development of the harpoon or the harpoon technology.But more authentic thematic reviews tend to break away from chronological order. For instance, a thematic review of material on sperm whales might examine how they are portrayed as “evil” in cultural documents. The subsections might include how they are personified, how their proportions are exaggerated, and their behaviors misunderstood. A review organized in this manner would shift between time periods within each section according to the point made.
• Methodological: A methodological approach differs from the two above in that the focusing factor usually does not have to do with the content of the material. Instead, it focuses on the “methods” of the researcher or writer. For the sperm whale project, one methodological approach would be to look at cultural differences between the portrayal of whales in American, British, and French art work. Or the review might focus on the economic impact of whaling on a community. A methodological scope will influence either the types of documents in the review or the way in which these documents are discussed. Once you’ve decided on the organizational method for the body of the review, the sections you need to include in the paper should be easy to figure out. They should arise out of your organizational strategy. In other words, a chronological review would have subsections for each vital time period. A thematic review would have subtopics based upon factors that relate to the theme or issue.

Sometimes, though, you might need to add additional sections that are necessary for your study, but do not fit in the organizational strategy of the body. What other sections you include in the body is up to you. Put in only what is necessary. Here are a few other sections you might want to consider:

• Current Situation: Information necessary to understand the topic or focus of the literature review.
• History: The chronological progression of the field, the literature, or an idea that is necessary to understand the literature review, if the body of the literature review is not already a chronology.
• Methods and/or Standards: The criteria you used to select the sources in your literature review or the way in which you present your information. For instance, you might explain that your review includes only peer-reviewed articles and journals.

Questions for Further Research: What questions about the field has the review sparked? How will you further your research as a result of the review?

Begin composing

Once you’ve settled on a general pattern of organization, you’re ready to write each section. There are a few guidelines you should follow during the writing stage as well. Here is a sample paragraph from a literature review about sexism and language to illuminate the following discussion:

However, other studies have shown that even gender-neutral antecedents are more likely to produce masculine images than feminine ones (Gastil, 1990). Hamilton (1988) asked students to complete sentences that required them to fill in pronouns that agreed with gender-neutral antecedents such as “writer,” “pedestrian,” and “persons.” The students were asked to describe any image they had when writing the sentence. Hamilton found that people imagined 3.3 men to each woman in the masculine “generic” condition and 1.5 men per woman in the unbiased condition. Thus, while ambient sexism accounted for some of the masculine bias, sexist language amplified the effect. (Source: Erika Falk and Jordan Mills, “Why Sexist Language Affects Persuasion: The Role of Homophily, Intended Audience, and Offense,” Women and Language19:2).

Use evidence

In the example above, the writers refer to several other sources when making their point. A literature review in this sense is just like any other academic research paper. Your interpretation of the available sources must be backed up with evidence to show that what you are saying is valid.

Be selective

Select only the most important points in each source to highlight in the review. The type of information you choose to mention should relate directly to the review’s focus, whether it is thematic, methodological, or chronological.

Use quotes sparingly

Falk and Mills do not use any direct quotes. That is because the survey nature of the literature review does not allow for in-depth discussion or detailed quotes from the text. Some short quotes here and there are okay, though, if you want to emphasize a point, or if what the author said just cannot be rewritten in your own words. Notice that Falk and Mills do quote certain terms that were coined by the author, not common knowledge, or taken directly from the study. But if you find yourself wanting to put in more quotes, check with your instructor.

Summarize and synthesize

Remember to summarize and synthesize your sources within each paragraph as well as throughout the review. The authors here recapitulate important features of Hamilton’s study, but then synthesize it by rephrasing the study’s significance and relating it to their own work.

Keep your own voice

While the literature review presents others’ ideas, your voice (the writer’s) should remain front and center. Notice that Falk and Mills weave references to other sources into their own text, but they still maintain their own voice by starting and ending the paragraph with their own ideas and their own words. The sources support what Falk and Mills are saying.

Use caution when paraphrasing

When paraphrasing a source that is not your own, be sure to represent the author’s information or opinions accurately and in your own words. In the preceding example, Falk and Mills either directly refer in the text to the author of their source, such as Hamilton, or they provide ample notation in the text when the ideas they are mentioning are not their own, for example, Gastil’s. For more information, please see our handout on plagiarism .

Revise, revise, revise

Draft in hand? Now you’re ready to revise. Spending a lot of time revising is a wise idea, because your main objective is to present the material, not the argument. So check over your review again to make sure it follows the assignment and/or your outline. Then, just as you would for most other academic forms of writing, rewrite or rework the language of your review so that you’ve presented your information in the most concise manner possible. Be sure to use terminology familiar to your audience; get rid of unnecessary jargon or slang. Finally, double check that you’ve documented your sources and formatted the review appropriately for your discipline. For tips on the revising and editing process, see our handout on revising drafts .

Works consulted

We consulted these works while writing this handout. This is not a comprehensive list of resources on the handout’s topic, and we encourage you to do your own research to find additional publications. Please do not use this list as a model for the format of your own reference list, as it may not match the citation style you are using. For guidance on formatting citations, please see the UNC Libraries citation tutorial . We revise these tips periodically and welcome feedback.

Anson, Chris M., and Robert A. Schwegler. 2010. The Longman Handbook for Writers and Readers , 6th ed. New York: Longman.

Jones, Robert, Patrick Bizzaro, and Cynthia Selfe. 1997. The Harcourt Brace Guide to Writing in the Disciplines . New York: Harcourt Brace.

Lamb, Sandra E. 1998. How to Write It: A Complete Guide to Everything You’ll Ever Write . Berkeley: Ten Speed Press.

Rosen, Leonard J., and Laurence Behrens. 2003. The Allyn & Bacon Handbook , 5th ed. New York: Longman.

Troyka, Lynn Quittman, and Doug Hesse. 2016. Simon and Schuster Handbook for Writers , 11th ed. London: Pearson.

You may reproduce it for non-commercial use if you use the entire handout and attribute the source: The Writing Center, University of North Carolina at Chapel Hill

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Literature Review Guide: Examples of Literature Reviews

• What is a Literature Review?
• How to start?
• Search strategies and Databases
• Examples of Literature Reviews
• How to organise the review
• Library summary
• Emerald Infographic

All good quality journal articles will include a small Literature Review after the Introduction paragraph.  It may not be called a Literature Review but gives you an idea of how one is created in miniature.

Sample Literature Reviews as part of a articles or Theses

• Sample Literature Review on Critical Thinking (Gwendolyn Reece, American University Library)
• Hackett, G and Melia, D . The hotel as the holiday/stay destination:trends and innovations. Presented at TRIC Conference, Belfast, Ireland- June 2012 and EuroCHRIE Conference

Links to sample Literature Reviews from other libraries

• Sample literature reviews from University of West Florida

Standalone Literature Reviews

• Attitudes towards the Disability in Ireland
• Martin, A., O'Connor-Fenelon, M. and Lyons, R. (2010). Non-verbal communication between nurses and people with an intellectual disability: A review of the literature. Journal of Intellectual Diabilities, 14(4), 303-314.

Irish Theses

• Phillips, Martin (2015) European airline performance: a data envelopment analysis with extrapolations based on model outputs. Master of Business Studies thesis, Dublin City University.
• The customers’ perception of servicescape’s influence on their behaviours, in the food retail industry : Dublin Business School 2015
• Coughlan, Ray (2015) What was the role of leadership in the transformation of a failing Irish Insurance business. Masters thesis, Dublin, National College of Ireland.
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How to Undertake an Impactful Literature Review: Understanding Review Approaches and Guidelines for High-impact Systematic Literature Reviews

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• Published: 09 May 2024

Machine learning models for abstract screening task - A systematic literature review application for health economics and outcome research

• Jingcheng Du 1 ,
• Ekin Soysal 1 , 3 ,
• Dong Wang 2 ,
• Long He 1 ,
• Bin Lin 1 ,
• Jingqi Wang 1 ,
• Frank J. Manion 1 ,
• Yeran Li 2 ,
• Elise Wu 2 &
• Lixia Yao 2  

BMC Medical Research Methodology volume  24 , Article number:  108 ( 2024 ) Cite this article

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Systematic literature reviews (SLRs) are critical for life-science research. However, the manual selection and retrieval of relevant publications can be a time-consuming process. This study aims to (1) develop two disease-specific annotated corpora, one for human papillomavirus (HPV) associated diseases and the other for pneumococcal-associated pediatric diseases (PAPD), and (2) optimize machine- and deep-learning models to facilitate automation of the SLR abstract screening.

This study constructed two disease-specific SLR screening corpora for HPV and PAPD, which contained citation metadata and corresponding abstracts. Performance was evaluated using precision, recall, accuracy, and F1-score of multiple combinations of machine- and deep-learning algorithms and features such as keywords and MeSH terms.

Results and conclusions

The HPV corpus contained 1697 entries, with 538 relevant and 1159 irrelevant articles. The PAPD corpus included 2865 entries, with 711 relevant and 2154 irrelevant articles. Adding additional features beyond title and abstract improved the performance (measured in Accuracy) of machine learning models by 3% for HPV corpus and 2% for PAPD corpus. Transformer-based deep learning models that consistently outperformed conventional machine learning algorithms, highlighting the strength of domain-specific pre-trained language models for SLR abstract screening. This study provides a foundation for the development of more intelligent SLR systems.

Peer Review reports

Introduction

Systematic literature reviews (SLRs) are an essential tool in many areas of health sciences, enabling researchers to understand the current knowledge around a topic and identify future research and development directions. In the field of health economics and outcomes research (HEOR), SLRs play a crucial role in synthesizing evidence around unmet medical needs, comparing treatment options, and preparing the design and execution of future real-world evidence studies. SLRs provide a comprehensive and transparent analysis of available evidence, allowing researchers to make informed decisions and improve patient outcomes.

Conducting a SLR involves synthesizing high-quality evidence from biomedical literature in a transparent and reproducible manner, and seeks to include all available evidence on a given research question, and provides some assessment regarding quality of the evidence [ 1 , 2 ]. To conduct an SLR one or more bibliographic databases are queried based on a given research question and a corresponding set of inclusion and exclusion criteria, resulting in the selection of a relevant set of abstracts. The abstracts are reviewed, further refining the set of articles that are used to address the research question. Finally, appropriate data is systematically extracted from the articles and summarized [ 1 , 3 ].

The current approach to conducting a SLR is through manual review, with data collection, and summary done by domain experts against pre-specified eligibility criteria. This is time-consuming, labor-intensive, expensive, and non-scalable given the current more-than linear growth of the biomedical literature [ 4 ]. Michelson and Reuter estimate that each SLR costs approximately $141,194.80 and that on average major pharmaceutical companies conduct 23.36 SLRs, and major academic centers 177.32 SLRs per year, though the cost may vary based on the scope of different reviews [ 4 ]. Clearly automated methods are needed, both from a cost/time savings perspective, and for the ability to effectively scan and identify increasing amounts of literature, thereby allowing the domain experts to spend more time analyzing the data and gleaning the insights.

One major task of SLR project that involves large amounts of manual effort, is the abstract screening task. For this task, selection criteria are developed and the citation metadata and abstract for articles tentatively meeting these criteria are retrieved from one or more bibliographic databases (e.g., PubMed). The abstracts are then examined in more detail to determine if they are relevant to the research question(s) and should be included or excluded from further consideration. Consequently, the task of determining whether articles are relevant or not based on their titles, abstracts and metadata can be treated as a binary classification task, which can be addressed by natural language processing (NLP). NLP involves recognizing entities and relationships expressed in text and leverages machine-learning (ML) and deep-learning (DL) algorithms together with computational semantics to extract information. The past decade has witnessed significant advances in these areas for biomedical literature mining. A comprehensive review on how NLP techniques in particular are being applied for automatic mining and knowledge extraction from biomedical literature can be found in Zhao et al. [ 5 ].

Materials and methods

The aims of this study were to: (1) identify and develop two disease-specific corpora, one for human papillomavirus (HPV) associated diseases and the other for pneumococcal-associated pediatric diseases suitable for training the ML and DL models underlying the necessary NLP functions; (2) investigate and optimize the performance of the ML and DL models using different sets of features (e.g., keywords, Medical Subject Heading (MeSH) terms [ 6 ]) to facilitate automation of the abstract screening tasks necessary to construct a SLR. Note that these screening corpora can be used as training data to build different NLP models. We intend to freely share these two corpora with the entire scientific community so they can serve as benchmark corpora for future NLP model development in this area.

SLR corpora preparation

Two completed disease-specific SLR studies by Merck & Co., Inc., Rahway, NJ, USA were used as the basis to construct corpora for abstract-level screening. The two SLR studies were both relevant to health economics and outcome research, including one for human papillomavirus (HPV) associated diseases (referred to as the HPV corpus), and one for pneumococcal-associated pediatric diseases (which we refer to as the PAPD corpus). Both of the original SLR studies contained literature from PubMed/MEDLINE and EMBASE. Since we intended for the screening corpora to be released to the community, we only kept citations found from PubMed/MEDLINE in the finalized corpora. Because the original SLR studies did not contain the PubMed ID (PMID) for each article, we matched each article’s citation information (if available) against PubMed and then collected meta-data such as authors, journals, keywords, MeSH terms, publication types, etc., using PubMed Entrez Programming Utilities (E-utilities) Application Programming Interface (API). The detailed description of the two corpora can be seen in Table  1 . Both of the resulting corpora are publicly available at [ https://github.com/Merck/NLP-SLR-corpora ].

Machine learning algorithms

Although deep learning algorithms have demonstrated superior performance on many NLP tasks, conventional machine learning algorithms have certain advantages, such as low computation costs and faster training and prediction speed.

We evaluated four traditional ML-based document classification algorithms, XGBoost [ 7 ], Support Vector Machines (SVM) [ 8 ], Logistic regression (LR) [ 9 ], and Random Forest [ 10 ] on the binary inclusion/exclusion classification task for abstract screening. Salient characteristics of these models are as follows:

XGBoost: Short for “eXtreme Gradient Boosting”, XGBoost is a boosting-based ensemble of algorithms that turn weak learners into strong learners by focusing on where the individual models went wrong. In Gradient Boosting, individual weak models train upon the difference between the prediction and the actual results [ 7 ]. We set max_depth at 3, n_estimators at 150 and learning rate at 0.7.

Support vector machine (SVM): SVM is one of the most robust prediction methods based on statistical learning frameworks. It aims to find a hyperplane in an N-dimensional space (where N = the number of features) that distinctly classifies the data points [ 8 ]. We set C at 100, gamma at 0.005 and kernel as radial basis function.

Logistic regression (LR): LR is a classic statistical model that in its basic form uses a logistic function to model a binary dependent variable [ 9 ]. We set C at 5 and penalty as l2.

Random forest (RF): RF is a machine learning technique that utilizes ensemble learning to combine many decision trees classifiers through bagging or bootstrap aggregating [ 10 ]. We set n_estimators at 100 and max_depth at 14.

These four algorithms were trained for both the HPV screening task and the PAPD screening task using the corresponding training corpus.

For each of the four algorithms, we examined performance using (1) only the baseline feature criteria (title and abstract of each article), and (2) with five additional meta-data features (MeSH, Authors, Keywords, Journal, Publication types.) retrieved from each article using the PubMed E-utilities API. Conventionally, title and abstract are the first information a human reviewer would depend on when making a judgment for inclusion or exclusion of an article. Consequently, we used title and abstract as the baseline features to classify whether an abstract should be included at the abstract screening stage. We further evaluated the performance with additional features that can be retrieved by PubMed E-utilities API, including MeSH terms, authors, journal, keywords and publication type. For baseline evaluation, we concatenated the titles and abstracts and extracted the TF-IDF (term frequency-inverse document frequency) vector for the corpus. TF-IDF evaluates how relevant a word is to a document in a collection of documents. For additional features, we extracted TF-IDF vector using each feature respectively and then concatenated the extracted vectors with title and abstract vector. XGBoost was selected for the feature evaluation process, due to its relatively quick computational running time and robust performance.

Deep learning algorithms

Conventional ML methods rely heavily on manually designed features and suffer from the challenges of data sparsity and poor transportability when applied to new use cases. Deep learning (DL) is a set of machine learning algorithms based on deep neural networks that has advanced performance of text classification along with many other NLP tasks. Transformer-based deep learning models, such as BERT (Bidirectional encoder representations from transformers), have achieved state-of-the-art performance in many NLP tasks [ 11 ]. A Transformer is an emerging architecture of deep learning models designed to handle sequential input data such as natural language by adopting the mechanisms of attention to differentially weigh the significance of each part of the input data [ 12 ]. The BERT model and its variants (which use Transformer as a basic unit) leverage the power of transfer learning by first pre-training the models over 100’s of millions of parameters using large volumes of unlabeled textual data. The resulting model is then fine-tuned for a particular downstream NLP application, such as text classification, named entity recognition, relation extraction, etc. The following three BERT models were evaluated against both the HPV and Pediatric pneumococcal corpus using two sets of features (title and abstract versus adding all additional features into the text). For all BERT models, we used Adam optimizer with weight decay. We set learning rate at 1e-5, batch size at 8 and number of epochs at 20.

BERT base: this is the original BERT model released by Google. The BERT base model was pre-trained on textual data in the general domain, i.e., BooksCorpus (800 M words) and English Wikipedia (2500 M words) [ 11 ].

BioBERT base: as the biomedical language is different from general language, the BERT models trained on general textual data may not work well on biomedical NLP tasks. BioBERT was further pre-trained (based on original BERT models) in the large-scale biomedical corpora, including PubMed abstracts (4.5B words) and PubMed Central Full-text articles (13.5B words) [ 13 ].

PubMedBERT: PubMedBERT was pre-trained from scratch using abstracts from PubMed. This model has achieved state-of-the-art performance on several biomedical NLP tasks on Biomedical Language Understanding and Reasoning Benchmark [ 14 ].

Text pre-processing and libraries that were used

We have removed special characters and common English words as a part of text pre-processing. Default tokenizer from scikit-learn was adopted for tokenization. Scikit-learn was also used for TF-IDF feature extraction and machine learning algorithms implementation. Transformers libraries from Hugging Face were used for deep learning algorithms implementation.

Evaluation datasets were constructed from the HPV and Pediatric pneumococcal corpora and were split into training, validation and testing sets with a ratio of 8:1:1 for the two evaluation tasks: (1) ML algorithms performance assessment; and (2) DL algorithms performance assessment. Models were fitted on the training sets, and model hyperparameters were optimized on the validation sets and the performance were evaluated on the testing sets. The following major metrics are expressed by the noted calculations:

Where True positive is an outcome where the model correctly predicts the positive (e.g., “included” in our tasks) class. Similarly, a True negative is an outcome where the model correctly predicts the negative class (e.g., “excluded” in our tasks). False positive is an outcome where the model incorrectly predicts the positive class, and a False negative is an outcome where the model incorrectly predicts the negative class. We have repeated all experiments five times and reported the mean scores with standard deviation.

Table  2 shows the baseline comparison using different feature combinations for the SLR text classification tasks using XGBoost. As noted, adding additional features in addition to title and abstract was effective in further improving the classification accuracy. Specifically, using all available features for the HPV classification increased accuracy by ? ∼  3% and F1 score by ? ∼  3%; using all available features for Pediatric pneumococcal classification increased accuracy by ? ∼  2% and F1 score by ? ∼  4%. As observed, adding additional features provided a stronger boost in precision, which contributed to the overall performance improvement.

The comparison of the article inclusion/exclusion classification task for four machine learning algorithms with all features is shown in Table  3 . XGBoost achieved the highest accuracy and F-1 scores in both tasks. Table  4 shows the comparison between XGBoost and deep learning algorithms on the classification tasks for each disease. Both XGBoost and deep learning models consistently have achieved higher accuracy scores when using all features as input. Among all models, BioBERT has achieved the highest accuracy at 0.88, compared with XGBoost at 0.86. XGBoost has the highest F1 score at 0.8 and the highest recall score at 0.9 for inclusion prediction.

Discussions and conclusions

Abstract screening is a crucial step in conducting a systematic literature review (SLR), as it helps to identify relevant citations and reduces the effort required for full-text screening and data element extraction. However, screening thousands of abstracts can be a time-consuming and burdensome task for scientific reviewers. In this study, we systematically investigated the use of various machine learning and deep learning algorithms, using different sets of features, to automate abstract screening tasks. We evaluated these algorithms using disease-focused SLR corpora, including one for human papillomavirus (HPV) associated diseases and another for pneumococcal-associated pediatric diseases (PADA). The publicly available corpora used in this study can be used by the scientific community for advanced algorithm development and evaluation. Our findings suggest that machine learning and deep learning algorithms can effectively automate abstract screening tasks, saving valuable time and effort in the SLR process.

Although machine learning and deep learning algorithms trained on the two SLR corpora showed some variations in performance, there were also some consistencies. Firstly, adding additional citation features significantly improved the performance of conventional machine learning algorithms, although the improvement was not as strong in transformer-based deep learning models. This may be because transformer models were mostly pre-trained on abstracts, which do not include additional citation information like MeSH terms, keywords, and journal names. Secondly, when using only title and abstract as input, transformer models consistently outperformed conventional machine learning algorithms, highlighting the strength of subject domain-specific pre-trained language models. When all citation features were combined as input, conventional machine learning algorithms showed comparable performance to deep learning models. Given the much lower computation costs and faster training and prediction time, XGBoost or support vector machines with all citation features could be an excellent choice for developing an abstract screening system.

Some limitations remain for this study. Although we’ve evaluated cutting-edge machine learning and deep learning algorithms on two SLR corpora, we did not conduct much task-specific customization to the learning algorithms, including task-specific feature engineering and rule-based post-processing, which could offer additional benefits to the performance. As the focus of this study is to provide generalizable strategies for employing machine learning to abstract screening tasks, we leave the task-specific customization to future improvement. The corpora we evaluated in this study mainly focus on health economics and outcome research, the generalizability of learning algorithms to another domain will benefit from formal examination.

Extensive studies have shown the superiority of transformer-based deep learning models for many NLP tasks [ 11 , 13 , 14 , 15 , 16 ]. Based on our experiments, however, adding features to the pre-trained language models that have not seen these features before may not significantly boost their performance. It would be interesting to find a better way of encoding additional features to these pre-trained language models to maximize their performance. In addition, transfer learning has proven to be an effective technique to improve the performance on a target task by leveraging annotation data from a source task [ 17 , 18 , 19 ]. Thus, for a new SLR abstract screening task, it would be worthwhile to investigate the use of transfer learning by adapting our (publicly available) corpora to the new target task.

When labeled data is available, supervised machine learning algorithms can be very effective and efficient for article screening. However, as there is increasing need for explainability and transparency in NLP-assisted SLR workflow, supervised machine learning algorithms are facing challenges in explaining why certain papers fail to fulfill the criteria. The recent advances in large language models (LLMs), such as ChatGPT [ 20 ] and Gemini [ 21 ], show remarkable performance on NLP tasks and good potentials in explainablity. Although there are some concerns on the bias and hallucinations that LLMs could bring, it would be worthwhile to evaluate further how LLMs could be applied to SLR tasks and understand the performance of using LLMs to take free-text article screening criteria as the input and provide explainanation for article screening decisions.

Data availability

The annotated corpora underlying this article are available at https://github.com/Merck/NLP-SLR-corpora .

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Acknowledgements

We thank Dr. Majid Rastegar-Mojarad for conducting some additional experiments during revision.

This research was supported by Merck Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc., Rahway, NJ, USA.

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Contributions

Study concept and design: JD and LY Corpus preparation: DW, YL and LY Experiments: JD and ES Draft of the manuscript: JD, DW, FJM and LY Acquisition, analysis, or interpretation of data: JD, ES, DW and LY Critical revision of the manuscript for important intellectual content: JD, ES, DW, LH, BL, JW, FJM, YL, EW, LY Study supervision: LY.

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DW is an employee of Merck Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc., Rahway, NJ, USA. EW, YL, and LY were employees of Merck Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc., Rahway, NJ, USA for this work. JD, LH, JW, and FJM are employees of Intelligent Medical Objects. ES was an employee of Intelligent Medical Objects during his contributions, and is currently an employee of EBSCO Information Services. All the other authors declare no competing interest.

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Du, J., Soysal, E., Wang, D. et al. Machine learning models for abstract screening task - A systematic literature review application for health economics and outcome research. BMC Med Res Methodol 24 , 108 (2024). https://doi.org/10.1186/s12874-024-02224-3

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Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature

• Jing Zheng 1 , 2 ,
• Meiqun Gu 1 , 2 ,
• Shasha Xiao 1 , 2 ,
• Chongzhen Li 1 , 2 ,
• Hongying Mi 1 , 2 &
• Xiaoyan Xu 1 , 2  

BMC Pediatrics volume  24 , Article number:  309 ( 2024 ) Cite this article

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Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron. The female patient was diagnosed in the neonatal period and presented with characteristic facial phenotype (midface retraction, prominent forehead, and low-set ears), bilateral symmetrical talipes equinovarus, overlapping toes, and severe bilateral hydronephrosis accompanied by congenital heart disease, consistent with canonical SGS. This is the first report of a typical SGS caused by a, SETBP1 non-degron missense variant. This case expands the genetic spectrum of SGS and provides new insights into genotype-phenotype correlations.

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Introduction

Schinzel-Giedion syndrome (SGS, OMIM 269,150) is a rare autosomal dominant genetic disorder first reported in 1978 [ 1 ]. Clinical features of SGS include distinctive facial appearance (commonly midface retraction), profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies such as congenital heart disease, hydronephrosis, delayed neurological development, and skeletal dysplasia [ 2 ]. Liu et al. proposed revised diagnostic criteria for SGS, classifying it into three types based on clinical presentation and/or pathogenic SETBP1 variant, enabling definitive diagnosis for patients with atypical clinical phenotypes via genetic testing and broadening the phenotypic spectrum [ 3 ].

Hoischen et al. confirmed that SGS is caused by variant in the SETBP1 gene. In contrast to loss-of-function (LoF) variant leading to SETBP1 haploinsufficiency disease (SETBP1-HD), characterized by hypotonia and mild motor developmental delay/intellectual disability (MIM: #616,078), known SETBP1 variants causing SGS are gain-of-function (GoF) and located within a 12 bp hotspot region encoding SETBP1 amino acid residues 868–871, which are associated with the canonical SGS phenotype. The SETBP1 aa868-871 region functions as a degron, a signal regulating protein degradation, and pathogenic variants within the degron result in SETBP1 protein accumulation. Missense variants of residues I871 and D868 have been demonstrated to be associated with the lowest and highest levels of pathogenic SETBP1 protein, respectively, indicating a significant genotype-phenotype correlation in this region [ 4 ].

In this study, we report a patient with a typical SGS clinical presentation, who was found to carry a novel de novo heterozygous SETBP1 D874V variant. The mutated residue is located near the degron region, but the patient presents with a classical clinical phenotype that could not be explained by the currently known genotype-phenotype correlations.

Materials and methods

A female neonate who was admitted to the neonatal intensive care unit of First People’s Hospital of Yunnan Province was included in this study. She exhibited dysmorphic facial features (midface retraction, frontal bossing, and low-set ears), bilateral varus, syndactyly of the 4th and 5th toe, hydronephrosis, and congenital heart disease. We conducted follow-up for her clinical condition. The patient’s parents provided written informed consent to the study.

Genetic tests

Two milliliters of the peripheral blood collected from the patient were used (anticoagulant: EDTA), and whole-exome sequencing was performed by Beijing Chigene Translational Medicine Research Center Co., Ltd (Beijing, China). Genomic DNA was extracted using the Blood Genome Column Medium Extraction Kit (Kangweishiji, China) according to the manufactural instructions. The extracted DNA samples were subjected to quality control using Qubit 2.0 fluorimeter and electrophoresis using 0.8% agarose gel for further protocol. Protein-coding exome enrichment was performed using xGen® Exome Research Panel v1.0 (IDT, Iowa, USA) that consists of 429,826 individually synthesized and quality-controlled probes, which targets 39 Mb protein-coding region (19,396 genes) of the human genome and covers 51 Mb of end-to-end tiled probe space. After target enrichment, high-throughput sequencing was performed on Illumina NovaSeq 6000 series sequencer (PE150), which was used to perform paired-end 150 bp sequencing, with a mean sequencing depth of 100X and sequencing coverage of 99%. Raw data were processed by the fastp software for adapters removing and low-quality reads filtering [ 5 ]. The paired-end reads were aligned to the Ensemble GRCh37/hg19 reference genome using the Burrows-Wheeler Aligner (BWA) software pacakage, and the GATK software was used reads calling. Detected single nucleotide polymorphisms (SNPs) and insertions and deletions (indels) not longer than 50 bp were then annotated using the ANNOVAR software. The common variants, with minor allele frequency (MAF) > 0.05, found in the 1000 Genomes Project and the ExAC and gnomAD databases were filtered out.

The primers designed for polymerase chain reaction (PCR) were as SETBP1 -F, 5′-GGGAGCAGAAATCAAAAGAGTACC-3′ and SETBP1 -R, 5′-CCAAAACCCAAAAGGGAATACACA-3′. Sanger sequencing was performed using the ABI 2720 DNA analyzer (USA). The NCBI BLAST algorithm was used for sequence alignment.

Pathogenicity analysis of genetic variants

Computer software, including REVEL, SIFT, Polyphen2-HVAR, Polyphen2-HDIV, PROVEAN, and MutationTaster, were used to predict the deleterious effects of each variant on the protein function. Exomiser and Phenolyzer software were used to perform genotype-phenotype analysis. Homology modeling was performed using the Modeller software ( https://salilab.org/modeller/ ) to analyze changes in the three-dimensional structure, and evolutionarily conserved regions were analyzed using UGENE software ( http://ugene.unipro.ru/ ). Finally, the pathogenicity assessment and genetic interpretation of candidate gene variants were performed according to the American College of Medical Genetics and Genomics guidelines and criteria [ 5 ] for variant classification.

Review of the literature

Variants and clinical features of previously reported cases with genetically diagnosed with SGS were collected. Data on these patients were retrieved from PubMed ( http://www.ncbi.nlm.nih.gov/pubmed ) using the search terms “Schinzel–Giedion syndrome” or “SGS” and “ SETBP1 ” Only articles in English were included.

Case presentation

The patient was admitted to the hospital with " high-risk delivery”, G1P1, born by cesarean section at a gestational age of 40 + 4 weeks, with a birth weight of 3430 g and an Apgar score of 9-9-9. Her parents were healthy, not consanguineous, and had no family history of specific diseases. The examination during pregnancy revealed that the mother suffered form gallbladder polyps and hypothyroidism.The fetus displayed severe hydronephrosis, pericardial effusion, and cauda equina cysts. Her physical examination upon admission showed stable vital signs, and stable breathing. Unique facial features included midface retraction, frontal bossing, and low-set ears (Fig. 1 A). The anterior fontanelle was flat and soft, the size is 3.0 cm*3.0 cm. There wasn’t flaring of nares, nor perioral and fingertip cyanosis. The pulmonary examination showed no abnormalities, heart rate was 125 beats/min, heart rhythm was regular, and class II/6 systolic murmur could be heard in the precordial region. The abdomen was significantly enlarged (Fig.  1 B), with an abdominal circumference of 38 cm, 2–3 bowel sounds/min, increased muscle tone of the limbs, limited abduction of both upper and lower limbs, bilateral varus, syndactyly of the 4th and 5th toe and vulvar malformation (dysplasia of the labia majora). During hospitalization, the patient had normal lab results for full biochemistry profile, routine blood, urine, and stool examinations, and thyroid function tests. In addition, tandem mass spectrometry screening of blood and urine samples showed normal results. Chest radiographs revealed broad bones (Fig.  2 A). Color Doppler echocardiography showed atrial septal defect, patent ductus arteriosus, right atrial and right ventricular enlargement. Moreover, color Doppler ultrasonography of the urinary system detected bilateral severe hydronephrosis (Fig.  2 D, E). Abdominal CT showed a significant increase in the size of both kidneys and signs of severe hydronephrosis in both kidneys (Fig.  2 F). Cranial color Doppler ultrasonography showed grade II-IVH on the left side and moderate enlargement of bilateral lateral cerebral ventricles (Fig.  2 B, C). Video electroencephalogram (EEG) showed normal results. No ocular fundus abnormalities were observed. Moreover, both ears did not respond to the rapid auditory brainstem response test. Due to the deformities of the heart, kidney, bone and other organs of the child, congenital genetic metabolic diseases could not be excluded. After obtaining the consent of the family members, the Whole-Exome Sequencing was improved. The child was treated with nasal catheter oxygen and anti-infection during the hospitalization. The child had difficulty in early feeding(weak sucking reflex) and could be fully fed orally before discharge, but the sucking power was also poor. Her parents abandoned treatment and was discharged from the hospital 13 days after birth. 8 months after birth, in the outpatient follow-up, the child presented with delayed gross motor development and no seizures, and the patient’s family members refused to perform a cranial MRI.

Phenotypic variants of the patient. ( A ) Characteristic midface retraction, frontal bossing, and low-set ears at 1 day after birth; ( B ) A grossly distended abdomen

Photographs show the clinical features of the patient in this study. ( A ) Chest radiographs at 1 day after birth show wide ribsn ( B, C ) Color doppler ultrasonography at 10 days after birth shows widened bodies and anterior horns of lateral ventricles; ( D, E ) Color doppler ultrasonography at 10 days after birth shows severe hydronephrosis was found in both kidneys, bilateral pelvis and calyces were severely dilated with a “palette” appearancete ( F ) Abdominal CT at 1 day after birth shows Significant increase in the size of both kidneys, signs of severe hydronephrosis in both kidneys

Result of genetic tests

Whole-exome sequencing suggested a heterozygous variant (c.2621 A > T, p.Asp874Val) in exon 4 of SETBP1 (NM_015559). This variant was a missense variant. The detected variant was not found in many databases including the 1,000 Genomes Project, ExAC gnomAD and dbSNP databases.

Analysis of the pathogenicity of gene variant

Sanger sequencing of the genome of the patient and her parents suggested that the patient had a de novo variant; As both parents had the wild-type gene (Fig.  3 ). Some silico predictions, including REVEL, SIFT, Polyphen2-HVAR, Polyphen2-HDIV, PROVEAN, and MutationTaster, suggested the deleterious effects of this variant on protein function. There has been no previous report of such variants. This variant was classified as likely pathogenic according to American College of Medical Genetics and Genomics guidelines (the supporting evidence for likely pathogenicity was PS2 + PM1 + PM2_Supporting + PP3).

Sanger sequencing confirms de novo c.2621 A > T variant(p.Asp874Val) in the SETBP1 gene in the patient

Protein-DNA/RNA docking using HDOCK server( http://hdock.phys.hust.edu.cn/ ) (hybrid algorithm of template-based modeling and ab initio free docking) is shown in Fig.  4 A. Green represents SETBP1 protein and sky blue represents E3 ubiquitin ligase, which promotes ubiquitination and degradation of SETBP1 protein. When mutated, SETBP1 protein fails to bind to E3 ubiquitin ligase, leading to protein overexpression. As shown in Fig.  4 A: S876, D868, S869, G870, I871, G872, T873 and D874 of SETBP1 form interactions with L48, K50, G101, C103, R105, P158 and N159 of E3 ubiquitin ligase, which in turn promote SETBP1 binding to E3 ubiquitin ligase and thus ubiquitination occurs. The hotspot variants D868, S869, G870 and I871 of the SETBP1 gene significantly affect the binding of SETBP1 to E3 ubiquitin ligase, thereby affecting ubiquitination. The D874V variant(p.Asp874Val) reported in this paper is also in the vicinity of the SETBP1 gene binding E3 ubiquitin ligase, which may also affect the binding of SETBP1 protein to E3 ubiquitin ligase and thus affect SETBP1 protein ubiquitination, ultimately leading to the development of the disease.Alignment of the SETBP1 sequences revealed that the amino acid residues at position 874 were strictly conserved (Fig. 4 B).

In-silico analysis of SETBP1 c.2621 A > T/p.Asp874Val variant. ( A ) Protein-DNA/RNA docking using HDOCK server ( http://hdock.phys.hust.edu.cn/ ) (hybrid algorithm of template-based modeling and ab initio free docking). As shown in Fig.  4 A: Green represents SETBP1 protein and sky blue represents E3 ubiquitin ligase. S876, D868, S869, G870, I871, G872, T873 and D874 of SETBP1 form interactions with L48, K50, G101, C103, R105, P158 and N159 of E3 ubiquitin ligase, which in turn promote SETBP1 binding to E3 ubiquitin ligase and thus ubiquitination occurs. The hotspot variants D868, S869, G870 and I871 of SETBP1 gene significantly affect the binding of SETBP1 to E3 ubiquitin ligase, thereby affecting ubiquitination. The D874V variant reported in this paper is also in the vicinity of the SETBP1 gene binding E3 ubiquitin ligase, which may also affect the binding of SETBP1 protein to E3 ubiquitin ligase and thus affect SETBP1 protein ubiquitination, ultimately leading to the development of the disease. ( B ) Alignment of the SETBP1 sequences revealed that the amino acid residues at position 874 were strictly conserved

The aforementioned data, the patient’s clinical manifestations, and the SETBP1 variant status indicated that SGS was caused by a heterozygous variant (c.2621 A > T, p.Asp874Val) in SETBP1 .

We evaluated a total of 20 articles and 60 patients. All data were curated in Table  1 .

Discussions

Liu et al. have updated the diagnostic criteria for Schinzel-Giedion (SGS). The revised criteria now classify SGS into three distinct types based on clinical observations and the presence of the SETBP1 variant [ 3 ]. SGS type I, also known as the classic type, is characterized by the hallmark clinical features, including developmental delays and distinctive facial morphology such as a prominent forehead, midface retraction, and low-set ears, as well as the presence of hydronephrosis or two of the four characteristic skeletal anomalies, including a sclerotic skull base, wide occipital synchondrosis, increased cortical density or thickness, and broad ribs. This classification aligns with the previously proposed diagnostic criteria by Lehman and colleagues. Type II refers to as an intermediate phenotype of SGS, is diagnosed in patients with development delays and the distinctive facial features, but without the presence of hydronephrosis or typical skeletal abnormalities, with the presence of the SETBP1 variant. Type III, also known as the simple type, is diagnosed in patients with the SETBP1 variant and developmental delays, with expressive language delay being the most prominent feature. These revised criteria will aid in the accurate diagnosis and management of SGS.

As far as we know, all reported cases of classical SGS meeting the diagnostic criteria proposed by Lehman and colleagues have exhibited missense variants within a 12-basepair hotspot located in exon 4 of the SETBP1 gene (Table  1 ) [ 4 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 ]. This hotspot, which encodes four amino acid residues (D868, S869, G870, and I871), known as the degron, is located within the SKI homologous region of the SETBP1 protein and is a critical site for substrate recognition by the cognate SCF-β-TrCP E3 ubiquitin ligase [ 4 , 12 ]. Variants within the degron prevent the binding of SETBP1 protein to E3 ubiquitin ligase, leading to protein overexpression [ 24 , 25 ]. Patients with missense variants in residues 862, 867, and 873 near the hotspot region exhibit a milder SGS phenotype, and the proximity of the mutated position to the degron is associated with clinical overlap with the classic SGS phenotype [ 4 , 7 ]. Notably, D874V found in this study is adjacent to the degron, which is inconsistent with the previous knowledge.

To date, 63 cases of genetically confirmed SGS have been reported, including 16 missense variants and 1 insertion variant (Table  1 ). SETBP1 D874V reported in this paper is a novel variant and the first report of SETBP1 non-hotspot variant identified in a canonical SGS case. Being highly conserved in different species, D874 might have an important biological role. In addition, protein model analysis of the variant suggests that the hotspot variants D868, S869, G870 and I871 of the SETBP1 gene significantly affect the binding of SETBP1 to E3 ubiquitin ligase, thereby affecting ubiquitination. The D874V variant reported in this paper is located in proximity of the bliding site for E3 ubiquitin ligase, which may also affect the binding of SETBP1 protein to E3 ubiquitin ligase and thus affect SETBP1 protein ubiquitination, ultimately leading to the development of the disease.

Diagnosing SGS in the neonatal period can be challenging due to the presence of non-specific symptoms, including genital abnormalities, reduced sucking ability, decreased muscle tone, and EEG waveform abnormalities, in addition to the typical clinical manifestations of SGS [ 12 ]. In a 2022 case report by Yang et al. [ 10 ], a neonatal patient with midface retraction and developmental delay was diagnosed with “non-classical” SGS based on the absence of hydronephrosis and skeletal abnormalities at birth, and the presence of a SETBP1 gene variant, S869G, according to the Lehman diagnostic criteria. However, after 18 months of follow-up, bilateral hydronephrosis was detected by color Doppler ultrasonography, leading to a revised diagnosis of classical SGS. The authors emphasize the importance of long-term follow-up to observe the evolution of phenotypes diagnosed by early molecular testing, as phenotypic changes are common, particularly in infants. Out of 56 patients with SGS exhibiting variants in the degron sequence (hotspot variants sequence), five did not have hydronephrosis. According to Yang et al.‘s case report, progressive hydronephrosis may occur in long-term survivors, albeit at a slower development rate. However, the patient reported in this study developed severe hydronephrosis in the neonatal period, underscoring the need for close monitoring of renal function during later follow-up.

The SETBP1 protein is expressed throughout the body, but its levels are highest during brain development before birth, when nerve cells undergo proliferation and migration to specific regions of the brain. Variants in the SETBP1 gene can result in severe neurological developmental abnormalities, given its critical role in this process. A study by Banfi F et al. revealed that SETBP1 variants lead to the accumulation of the SETBP1 and SET proteins and the consequent P53 inhibition in neural cells. These molecular changes promote the onset of cancer-like behavior in neural progenitors that accumulate widespread DNA damage without programmed cell death engagement [ 26 ]. Neurodevelopmental delay is a hallmark characteristic of SGS, with asphyxia, feeding difficulties, and recurrent apnea being common symptoms in the neonatal period [ 11 ]. A stud y by Wong MM et a l illustrated that the variants that carrying SETBP1 missense variants outside the degron, cause a clinically and functionally variable developmental syndrome, showing only partial overlaps with classical SGS and SETBP1-HD, and primarily characterised by intellectual disability, epilepsy, speech and motor impairment [ 27 ]. The incidence of developmental delay, epilepsy, and expressive language delay is extremely high with increasing age, with 97% (56/58) of reported cases of children with SGS presenting with neurological developmental abnormalities, including developmental delay and seizures. In this study, cranial color Doppler ultrasonography showed moderate enlargement of bilateral lateral cerebral ventricles and a normal EEG waveform during the neonatal period. However, the patient’s family members did not approve of performing a cranial MRI. Currently, at 8 months of age, the patient exhibits retardation of gross motor development but has not experienced epileptic seizures. Long-term follow-up visits are required to monitor the patient’s progress. These findings highlight the importance of early diagnosis and appropriate imaging studies in the management of SGS, particularly in patients with a suspected neurological developmental abnormality.

In summary, this study reports the first case of canonical SGS in a Chinese neonate caused by a novel SETBP1 non-degron region variant, D874V. This finding expands the genetic spectrum of SGS and provides a new case for investigating genotype-phenotype correlations in SGS.

Data availability

The datasets presented in this article are not readily available because of privacy restrictions (the guardians of patients are reluctant to authorize the release of all the raw data of whole-exome sequencing, but agree to contribute positive sanger-sequencing results). Requests to access the datasets should be directed to the corresponding author.

Abbreviations

• Schinzel-Giedion syndrome

Gain-of-function

Loss-of-function

Electroencephalogram

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Acknowledgements

We would like to thank the patient and their family for their participation in this study. We sincerely thank the Beijing Chgene Translational Medicine Research Center, the Beijing Kangxu Medical Inspection Institute and the Wuhan Kindstar Medical Inspection Institute provide us with essential help for genetic testing.

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ZJ, GM, and XS conceptualized and designed the study, collected data, carried out the analyses, drafted the initial manuscript, and reviewed and revised the manuscript. LC provides color ultrasound examinations for children. MH and XX conceptualized and designed the study, and critically reviewed the manuscript. All authors reviewed and approved the final version.

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Correspondence to Xiaoyan Xu .

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Zheng, J., Gu, M., Xiao, S. et al. Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature. BMC Pediatr 24 , 309 (2024). https://doi.org/10.1186/s12887-024-04779-y

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DOI : https://doi.org/10.1186/s12887-024-04779-y

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CASE REPORT article

Difficult diagnosis of mycobacterium tuberculosis infection in patients after allogeneic hematopoietic stem cell transplantation: two case reports and literature review.

• Department of Hematology, The First Hospital of China Medical University, Shenyang, Liaoning Province, China

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Background: Mycobacterium tuberculosis (MTB) is a relatively infrequent infection encountered during hematopoietic stem cell transplantation (HSCT). The identification of MTB following HSCT remains a complex task, with delayed detection and misdiagnosis potentially resulting in unfavorable outcomes. Metagenomic next-generation sequencing (mNGS) represents a novel, highly sensitive and rapid diagnostic tool in clinical settings for discerning intricate infections and detecting exceedingly rare pathogens.Methods: With the aid of mNGS, we diagnosed MTB in the lymph nodes and lungs of two patients with hematological diseases following allogeneic peripheral blood hematopoietic stem cell transplantation. Both patients presented with fever, localized symptoms and clinical signs. Following inconclusive results from routine tests, impractical biopsy procedures and unsuccessful responses to empirical treatments, mNGS was employed as a final recourse, revealing DNA fragments of MTB in blood samples.Results:The diagnoses were ultimately confirmed in conjunction with additional clinical evidence. The application of mNGS in MTB cases after allogeneic HSCT has rarely been reported. The mNGS technique can provide a prompt and highly sensitive indication leading to the definitive diagnosis of MTB in complex post-transplant scenarios.

Keywords: Mycobacterium tuberculosis, Hematopoietic Stem Cell Transplantation, mNGS (metagenomic next-generation sequencing), Allo HSCT, MTB (Mycobacterium tuberculosis)

Received: 25 Aug 2023; Accepted: 08 May 2024.

Copyright: © 2024 Liu, Cai and Su. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dali Cai, Department of Hematology, The First Hospital of China Medical University, Shenyang, 110000, Liaoning Province, China Nan Su, Department of Hematology, The First Hospital of China Medical University, Shenyang, 110000, Liaoning Province, China

Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.