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
Authors | George, Sophia H. L., Medina-Rivera, Alejandra, Idaghdour, Youssef, Lappalainen, Tuuli and Gallego Romero, Irene |
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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. |
Year | 2023 |
Journal | American Journal of Human Genetics |
Journal citation | 110 (12), pp. 1996-2002 |
Publisher | Cell Press |
ISSN | 0002-9297 |
Digital Object Identifier (DOI) | https://doi.org/10.1016/j.ajhg.2023.10.012 |
PubMed ID | 37995684 |
Scopus EID | 2-s2.0-85178152312 |
PubMed Central ID | PMC10716434 |
Page range | 1996-2002 |
Funder | Chan 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 status | Published |
Publication dates | |
Online | 07 Dec 2023 |
Publication process dates | |
Deposited | 03 Apr 2025 |
Grant ID | DAF2021-240624 |
W81XWH-18-1-0072 | |
DAF2022-239720 | |
2021-240438 | |
11311 | |
6390 | |
IA203021 | |
IN218023 | |
2020501 | |
810645 | |
MOBEC008 |
https://acuresearchbank.acu.edu.au/item/91905/increasing-diversity-of-functional-genetics-studies-to-advance-biological-discovery-and-human-health
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