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

George, Sophia H.L.Department of Obstetrics, Gynecology and Reproductive Sciences, Miller School of Medicine, University of Miami, Miami, FL, USA; Sylvester Comprehensive Cancer Center, Coral Gables, FL, USA (author)

QC 20231214
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.

Medina-Rivera, AlejandraLaboratorio Internacional de Investigacion Sobre El Genoma Humano, Universidad Nacional Autonoma de Mexico, Juriquilla, Queretaro, Mexico (author)
Idaghdour, YoussefProgram in Biology, Division of Science and Mathematics, New York University Abu Dhabi, Abu Dhabi, UAE; Public Health Research Center, New York University Abu Dhabi, Abu Dhabi, UAE; Center for Genomics and Systems Biology, New York University Abu Dhabi, Abu Dhabi, UAE (author)
Lappalainen, TuuliKTH,Genteknologi,Science for Life Laboratory, SciLifeLab,New York Genome Center, New York, NY, USA(Swepub:kth)u1o81n30 (author)
Gallego Romero, IreneMelbourne Integrative Genomics and School of BioSciences, University of Melbourne, Parkville, VIC, Australia; Center for Genomics, Evolution and Medicine, Institute of Genomics, University of Tartu, Tartu, Estonia (author)
Department of Obstetrics, Gynecology and Reproductive Sciences, Miller School of Medicine, University of Miami, Miami, FL, USA; Sylvester Comprehensive Cancer Center, Coral Gables, FL, USALaboratorio Internacional de Investigacion Sobre El Genoma Humano, Universidad Nacional Autonoma de Mexico, Juriquilla, Queretaro, Mexico (creator_code:org_t)

In:American Journal of Human Genetics: Cell Press110:12, s. 1996-20020002-92971537-6605

By the author/editor: George, Sophia H ...; Medina-Rivera, A ...; Idaghdour, Youss ...; Lappalainen, Tuu ...; Gallego Romero, ...

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NATURAL SCIENCES: NATURAL SCIENCES; and Biological Scien ...; and Biochemistry and ...

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