Department of Obstetrics, Gynecology and Reproductive Sciences, Miller School of Medicine, University of Miami, Miami, FL, USA; Sylvester Comprehensive Cancer Center, Miami, FL, USA.
Laboratorio Internacional de Investigación Sobre El Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro, México.
Am J Hum Genet. 2023 Dec 7;110(12):1996-2002. doi: 10.1016/j.ajhg.2023.10.012. Epub 2023 Nov 22.
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.
在这篇观点文章中，我们讨论了功能基因组学数据集中当前存在的遗传和环境多样性的缺乏。遗传和功能基因组学研究中存在一种描述明确的、以欧洲为中心的偏见，这对该研究为代表性不足的人群带来的益处产生了明显的影响。目前，专注于遗传变异与功能实验的研究旨在确定分子 QTL，但由于遗传多样性个体的数据缺乏，分析大多局限于欧洲血统的人群。尽管已经做出一些努力来增加功能基因组学研究的多样性，但要从现在开始为代表性不足的人群持续生成数据，还有很多工作要做。我们讨论了实现这种连续性的主要障碍，并提出了切实可行的见解，旨在为服务不足的人群赋能研究和研究人员。
