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Using Population Descriptors in Genetics and Genomics Research

A New Framework for an Evolving Field


Washington (DC): National Academies Press (US); .
ISBN-13: 978-0-309-70065-8ISBN-10: 0-309-70065-5

Genetic 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.


This project has been funded with federal funds under Contract No. HHSN263201800029I (75N98021F00009) between the National Academy of Sciences and the Department of Health and Human Services, National Institutes of Health: All of Us Research Program; National Cancer Institute; National Heart, Lung, and Blood Institute; National Human Genome Research Institute; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Dental and Craniofacial Research; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of Environmental Health Sciences; National Institute of Nursing Research; National Institute on Aging; National Institute on Drug Abuse; National Institute on Minority Health and Health Disparities; NIH Office of Behavioral and Social Sciences Research; and NIH Office of Science Policy. Any opinions, findings, conclusions, or recommendations expressed in this publication do not necessarily reflect the views of any organization or agency that provided support for the project.

Suggested citation:

National Academies of Sciences, Engineering, and Medicine. 2023. Using population descriptors in genetics and genomics research: A new framework for an evolving field. Washington, DC: The National Academies Press. https://doi.org/10.17226/26902.

Digital Object Identifier: https://doi.org/10.17226/26902

This publication is available from the National Academies Press, 500 Fifth Street, NW, Keck 360, Washington, DC 20001; (800) 624-6242 or (202) 334-3313; http://www.nap.edu.

Printed in the United States of America.

Copyright 2023 by the National Academy of Sciences. All rights reserved.
Bookshelf ID: NBK589855PMID: 36989389DOI: 10.17226/26902


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