在全球人类人口中计算准确度
Jordan L Cahoon1,2,3, Xinyue Rui1, Echo Tang2
1Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
bioRxiv : the preprint server for biology
|June 9, 2023
概括
在全球人口中,基因型赋值的准确性差异很大,非欧洲祖先的表现较低. 目前的归算方法和参考面板并不能完全解决这种差异,突出显示需要在遗传研究中增加多样性.
科学领域:
- 基因组学就是基因组学.
- 人口遗传学 人口遗传学
- 生物信息学是一种生物信息学.
背景情况:
- 基因型归因对于全基因组关联研究 (GWAS) 至关重要.
- 现有的归算参考小组,如TOPMed,低于非欧洲祖先,导致公平性问题.
- 尽管取得了进展,但对北美以外的人口的归算准确性仍然是一个问题.
结论:
- 目前的参考小组的多样性和规模不足以进行公平的基因型归算.
- 在经过测试的设计中,元归算并没有提高代表性不足的非欧洲人口的归算准确性.
- 在参考小组中增加多样性和样本规模对于促进基因研究中的公平性至关重要.
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