在四个不同的拉丁美洲队伍中比较归算参考小组组成的影响
Jennifer N French1, Victor Borda Pua1,2, Roland Laboulaye1
1Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD.
bioRxiv : the preprint server for biology
|April 25, 2024
概括
参考小组的组成显著影响了拉丁美洲人口的遗传归算质量. 包括更多的拉丁美洲个人和增加美洲原住民的混合物可以提高全基因组关联研究的准确性.
科学领域:
- 人口遗传学 人口遗传学
- 基因组推算是基因组推算的一种方法.
- 生物信息学是一种生物信息学.
背景情况:
- 全基因组关联研究 (GWAS) 识别遗传风险因素,但取决于准确的归因.
- 现有的归算参考面板往往缺乏多样性,主要以欧洲血统为特色,导致代表性不足的群体的归算质量降低.
- 拉丁美洲人口代表性不足,这给遗传研究带来了挑战.
结论:
- 参考小组的组成极大地影响了拉丁美洲人口的归算准确性.
- 增加土著美国人的添加剂提高了归算质量,但影响在不同的人口中各不相同.
- 未来的参考面板需要谨慎的构建,以确保在不同拉丁美洲群体和基因组区域之间公平的归算性能.
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