包容性偏差会影响常见变体的发现和复制,在与卫生系统相关的生物银行中
Aditya Pimplaskar1,2,3, Junqiong Qiu3, Sandra Lapinska1,3
1Bioinformatics Interdepartmental Program, UCLA, Los Angeles, CA, USA.
medRxiv : the preprint server for health sciences
|April 16, 2025
概括
与电子健康记录 (EHR) 相关联的生物银行面临参与偏见. 使用反向概率权重来计算这些偏差,可以提高遗传关联结果的复制性,从而增强精确医学研究.
科学领域:
- 遗传学和生物信息学
- 精准医学是一门精准的医学.
- 这是生物银行.
背景情况:
- 连接到电子健康记录 (EHR) 的生物库整合了用于精准医学的临床和分子数据.
- 生物银行经常使用选择性同意,导致潜在的参与和招聘偏见.
- 这些偏差对生物库中的遗传分析的影响还不太清楚.
研究的目的:
- 量化EHR链接生物库中的偏差,并评估其对遗传分析的影响.
- 评估逆概率权衡在缓解偏差方面的有效性.
- 提高生物库种群中遗传关联研究的稳定性.
主要方法:
- 作为一个案例研究,利用了UCLA ATLAS社区卫生倡议.
- 使用社会人口统计学和医疗保健利用因素量化参与偏差 (AUROC = 0.85,AUPRC = 0.82).
- 应用逆概率权重对生物库样本进行校正,以纠正已识别的偏差.
主要成果:
- 参与偏差显著地使生物银行参与者与一般患者群体有所区别.
- 与未加权模型相比,反向概率加权增加了已知的全基因组关联研究 (GWAS) 变体的复制率54%.
- 权重分析表明,对于多基因分数 (PGS) -全表现体协会,协会更强大.
结论:
- 生物库中的遗传分析必须考虑纳入偏差,以确保准确的结果.
- 反向概率权重是纠正生物银行遗传研究参与偏差的可行方法.
- 解决偏差可以提高准确医学应用的研究结果的可靠性.
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