EraSOR:一种软件工具,用于消除多基因分数分析中的样本重叠导致的通货膨胀
Shing Wan Choi1,2, Timothy Shin Heng Mak3, Clive J Hoggart1
1Department of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, New York City, NY 10029, USA.
GigaScience
|June 16, 2023
概括
样本重叠显著膨胀多基因风险评分 (PRS) 的结果. 一种新方法,EraSOR,有效地纠正了这种通货膨胀和相关性,提供了更可靠的PRS分析.
科学领域:
- 遗传学 是一个遗传学.
- 生物医学研究生物医学研究
- 统计基因组学 统计基因组学
背景情况:
- 多基因风险评分 (PRS) 分析在生物医学研究中越来越常见.
- 越来越大的研究规模增加了全基因组关联研究 (GWAS) 发现和PRS目标样本之间的样本重叠的风险.
- 样本重叠对PRS结果的影响尚未定量,缺乏分析解决方案.
研究的目的:
- 调查PRS研究中的样本重叠问题的规模.
- 开发和引入一种方法来纠正PRS分析中的样本重叠和相关性.
主要方法:
- 对样本重叠对PRS结果的影响进行全面调查.
- 开发和应用EraSOR (删除样本重叠和相关性) 方法和软件.
主要成果:
- 即使样本重叠最小,PRS结果也会被大幅膨胀.
- 在大多数测试的场景中,EraSOR有效地消除了由样本重叠和密切相关性引起的通货膨胀.
结论:
- 在PRS研究中,EraSOR是一个有价值的工具,目标样本>1,000个.
- 它可以减轻已知/未知重叠和相关性的影响,或作为灵敏度分析工具.
- 在考虑潜在的样本重叠时,EraSOR为PRS结果提供了一个下限.
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