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Using population descriptors in genetics and genomics research [electronic resource] : a new framework for an evolving field

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서명/저자사항Using population descriptors in genetics and genomics research [electronic resource]: a new framework for an evolving field / Committee on the Use of Race, Ethnicity, and Ancestry as Population Descriptors in Genomics Research, Board on Health Sciences Policy, Health and Medicine Division, Committee on Population, Division of Behavioral and Social Sciences and Education, National Academies of Sciences, Engineering, and Medicine.
단체저자명National Academies of Sciences, Engineering, and Medicine (U.S.). Committee on the Use of Race, Ethnicity, and Ancestry as Population Descriptors in Genomics Research,author.
National Academies of Sciences, Engineering, and Medicine (U.S.),issuing body.
발행사항Washington, DC: National Academies Press, 2023.
형태사항1 online resource (xxi, 217 pages) : illustrations.
총서사항Consensus study report
ISBN0309700663
9780309700665


기타표준부호doi
일반주기 "National Academies Press"
서지주기Includes bibliographical references.
내용주기Intro -- FrontMatter -- Reviewers -- Acknowledgments -- Contents -- List of Boxes, Figures, and Tables -- Preface -- Abbreviations -- Summary -- SECTION I: PAST AND CURRENT USE OF POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH -- 1 Population Descriptors in Human Genetics Research: Genesis, Evolution, and Challenges -- 2 A Multiplicity of Descriptors in Genetics and Genomics Research -- SECTION II: RECOMMENDATIONS -- 3 Guiding Principles -- 4 Requisites for Sustained Change -- 5 Guidance for Selection and Use of Population Descriptors in Genomics Research
6 Implementation and Accountability -- Appendix A: Study Approach and Methods -- Appendix B: Glossary -- Appendix C: Table of International Programs -- Appendix D:Decision Tree for the Use of Population Descriptors in Genomics Research -- Appendix E: Committee and Staff Biosketches -- Appendix F: Disclosure of Unavoidable Conflict of Interest
요약"This commissioned study describes an effort to clarify the scientific rationales for describing research participants and their group labels. We start with a historical view of how we got to our current state, then proceed to examine how else we could achieve our scientific aims, and follow with our recommendations and suggested implementations to improve genetic and genomic science. Our overarching goal is to motivate researchers to consider when population descriptors are necessary, which ones are appropriate for a specific type of genetics study design, whether multiple descriptors are necessary, and what additional information is needed for genetic dissection of phenotypes"--Page xviii.
요약Genetic and genomic information has become far more accessible, and research using human genetic data has grown exponentially over the past decade. Genetics and genomics research is now being conducted by a wide range of investigators across disciplines, who often use population descriptors inconsistently and/or inappropriately to capture the complex patterns of continuous human genetic variation.In response to a request from the National Institutes of Health, the National Academies assembled an interdisciplinary committee of expert volunteers to conduct a study to review and assess existing methodologies, benefits, and challenges in using race, ethnicity, ancestry, and other population descriptors in genomics research. The resulting report focuses on understanding the current use of population descriptors in genomics research, examining best practices for researchers, and identifying processes for adopting best practices within the biomedical and scientific communities.
일반주제명Human population genetics --Research.
Human genetics --Research.
Human genome --Research.
Ethnicity.
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