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Increasing diversity of functional genetics studies to advance biological discovery and human health
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.
Laboratorio Internacional de Investigacion Sobre El Genoma Humano, Universidad Nacional Autonoma de Mexico, Juriquilla, Queretaro, Mexico.
Program 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.
KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Gene Technology. KTH, Centres, Science for Life Laboratory, SciLifeLab. New York Genome Center, New York, NY, USA.ORCID iD: 0000-0002-7746-8109
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2023 (English)In: American Journal of Human Genetics, ISSN 0002-9297, E-ISSN 1537-6605, Vol. 110, no 12, p. 1996-2002Article, review/survey (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
Cell Press , 2023. Vol. 110, no 12, p. 1996-2002
National Category
Genetics and Genomics Biochemistry Molecular Biology
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URN: urn:nbn:se:kth:diva-340776DOI: 10.1016/j.ajhg.2023.10.012ISI: 001134361200001PubMedID: 37995684Scopus ID: 2-s2.0-85178152312OAI: oai:DiVA.org:kth-340776DiVA, id: diva2:1819452
Note

QC 20231214

Available from: 2023-12-14 Created: 2023-12-14 Last updated: 2025-02-20Bibliographically approved

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Lappalainen, Tuuli

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