选择扫描中的多重测试校正,使用身份按下降段
Seth D Temple1,2,3, Sharon R Browning4
1Department of Statistics, University of Washington, Seattle, Washington, USA.
bioRxiv : the preprint server for biology
|February 20, 2025
概括
精确检测遗传适应需要对多次测试进行校正. 我们开发了一种高效的方法,使用认同后裔 (IBD) 率来控制选择扫描中的错误发现,成功地识别了最近的人类适应.
科学领域:
- 人口遗传学 人口遗传学
- 基因组学就是基因组学.
- 进化生物学 进化生物学
背景情况:
- 选择扫描的目的是识别最近的遗传适应.
- 多重测试校正对于避免错误发现至关重要.
- 目前的方法在复杂的统计数据上扎,以获得全基因组的意义.
研究的目的:
- 提出一种计算效率高的方法,用于确定基因组范围的显著性水平,在基于身份依系 (IBD) 的选择扫描中.
- 为了控制家族智能错误率 (FWER) 在检测最近的阳性选择.
- 为了识别人类群体最近选择的统计学上显著的信号.
主要方法:
- 模拟身份按血统 (IBD) 率的自相关性.
- 开发一种计算效率高的方法来确定意义级别.
- 使用全基因组模拟来验证该方法的性能.
- 分析来自TOPMed和英国生物银行的大规模人类遗传数据.
主要成果:
- 拟议的方法证明了对家庭智能错误率 (FWER) 的近似控制.
- 该方法适应基因组中的不同测试间距.
- 观察到高功率 (>50%) 来检测具有特定选择系数和等位基因频率的硬扫描.
- 在非洲,欧洲和南亚祖先群体的人类基因中发现了IBD细分的统计学上显著的过剩.
- 许多已识别的选择信号在不同的祖先群体中共享.
- 在非洲祖先样本中的骨细胞发育基因中检测到最近选择的特别强烈信号.
结论:
- 开发的基于IBD的方法为检测最近的阳性选择提供了计算效率高和可靠的方法.
- 这些发现突出了最近人类适应的共同和祖先特定信号.
- 该研究在最近的选择中确定了特定的基因和基因复合体,在非洲人群中有显著的信号.
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