Increasing diversity of functional genetics studies to advance biological discovery and human health

Journal article


George, Sophia H. L., Medina-Rivera, Alejandra, Idaghdour, Youssef, Lappalainen, Tuuli and Gallego Romero, Irene. (2023). Increasing diversity of functional genetics studies to advance biological discovery and human health. American Journal of Human Genetics. 110(12), pp. 1996-2002. https://doi.org/10.1016/j.ajhg.2023.10.012
AuthorsGeorge, Sophia H. L., Medina-Rivera, Alejandra, Idaghdour, Youssef, Lappalainen, Tuuli and Gallego Romero, Irene
Abstract

In this perspective we discuss the current lack of genetic and environmental diversity in functional genomics datasets. There is a well-described Eurocentric bias in genetic and functional genomic research that has a clear impact on the benefit this research can bring to underrepresented populations. Current research focused on genetic variant-to-function experiments aims to identify molecular QTLs, but the lack of data from genetically diverse individuals has limited analyses to mostly populations of European ancestry. Although some efforts have been established to increase diversity in functional genomic studies, much remains to be done to consistently generate data for underrepresented populations from now on. We discuss the major barriers for this continuity and suggest actionable insights, aiming to empower research and researchers from underserved populations.

Year2023
JournalAmerican Journal of Human Genetics
Journal citation110 (12), pp. 1996-2002
PublisherCell Press
ISSN0002-9297
Digital Object Identifier (DOI)https://doi.org/10.1016/j.ajhg.2023.10.012
PubMed ID37995684
Scopus EID2-s2.0-85178152312
PubMed Central IDPMC10716434
Page range1996-2002
FunderChan Zuckerberg Initiative Ancestry Network
CDMRP Ovarian Cancer program
CONACYT-FORDECYT-PRONACES
Universidad Nacional Autónoma de México
National Health and Medical Research Council (NHMRC)
European Union
European Regional Development Fund (FEDER)
Publisher's version
License
All rights reserved
File Access Level
Controlled
Output statusPublished
Publication dates
Online07 Dec 2023
Publication process dates
Deposited03 Apr 2025
Grant IDDAF2021-240624
W81XWH-18-1-0072
DAF2022-239720
2021-240438
11311
6390
IA203021
IN218023
2020501
810645
MOBEC008
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https://acuresearchbank.acu.edu.au/item/91905/increasing-diversity-of-functional-genetics-studies-to-advance-biological-discovery-and-human-health

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