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Evaluating the promise of inclusion of African ancestry populations in genomics
npj Genomic Medicine ( IF 4.7 ) Pub Date : 2020-02-25 , DOI: 10.1038/s41525-019-0111-x
Amy R Bentley 1 , Shawneequa L Callier 1, 2 , Charles N Rotimi 1
Affiliation  

The lack of representation of diverse ancestral backgrounds in genomic research is well-known, and the resultant scientific and ethical limitations are becoming increasingly appreciated. The paucity of data on individuals with African ancestry is especially noteworthy as Africa is the birthplace of modern humans and harbors the greatest genetic diversity. It is expected that greater representation of those with African ancestry in genomic research will bring novel insights into human biology, and lead to improvements in clinical care and improved understanding of health disparities. Now that major efforts have been undertaken to address this failing, is there evidence of these anticipated advances? Here, we evaluate the promise of including diverse individuals in genomic research in the context of recent literature on individuals of African ancestry. In addition, we discuss progress and achievements on related technological challenges and diversity among scientists conducting genomic research.



中文翻译:


评估将非洲血统人群纳入基因组学的前景



基因组研究中缺乏对不同祖先背景的代表性是众所周知的,并且由此产生的科学和伦理限制也越来越受到人们的重视。由于非洲是现代人类的诞生地并拥有最大的遗传多样性,因此有关非洲血统个体的数据匮乏尤其值得注意。预计基因组研究中非洲血统的更多代表性将为人类生物学带来新的见解,并导致临床护理的改善和对健康差异的理解。既然已经采取了重大努力来解决这一问题,是否有证据表明这些预期的进展?在这里,我们在最近关于非洲血统个体的文献的背景下评估了将不同个体纳入基因组研究的前景。此外,我们还讨论了进行基因组研究的科学家在相关技术挑战和多样性方面的进展和成就。

更新日期:2020-02-25
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