TY - JOUR
T1 - Increasing diversity of functional genetics studies to advance biological discovery and human health
AU - George, Sophia H.L.
AU - Medina-Rivera, Alejandra
AU - Idaghdour, Youssef
AU - Lappalainen, Tuuli
AU - Gallego Romero, Irene
N1 - Publisher Copyright:
© 2023 American Society of Human Genetics
PY - 2023/12/7
Y1 - 2023/12/7
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85178152312&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85178152312&partnerID=8YFLogxK
U2 - 10.1016/j.ajhg.2023.10.012
DO - 10.1016/j.ajhg.2023.10.012
M3 - Review article
C2 - 37995684
AN - SCOPUS:85178152312
SN - 0002-9297
VL - 110
SP - 1996
EP - 2002
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 12
ER -