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Increasing diversity of functional genetics studies to advance biological discovery and human health
American Journal of Human Genetics ( IF 9.8 ) Pub Date : 2023-11-22 , DOI: 10.1016/j.ajhg.2023.10.012
Sophia H L George 1 , Alejandra Medina-Rivera 2 , Youssef Idaghdour 3 , Tuuli Lappalainen 4 , Irene Gallego Romero 5
Affiliation  

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.



中文翻译:

增加功能遗传学研究的多样性,以推进生物发现和人类健康

从这个角度来看,我们讨论了当前功能基因组学数据集中缺乏遗传和环境多样性的问题。遗传和功能基因组研究中存在着一种众所周知的欧洲中心偏见,这对这项研究为代表性不足的人群带来的好处产生了明显的影响。目前的研究重点是遗传变异到功能实验,旨在识别分子 QTL,但缺乏来自遗传多样性个体的数据,限制了对大多数欧洲血统群体的分析。尽管已经做出了一些努力来增加功能基因组研究的多样性,但从现在开始,要持续为代表性不足的人群生成数据,还有很多工作要做。我们讨论了这种连续性的主要障碍,并提出了可行的见解,旨在为服务不足的人群的研究和研究人员提供支持。

更新日期:2023-11-22
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