MultiSTAAR提供生物库规模测序数据的多性状罕见变异分析。

IF 18.3 Q1 COMPUTER SCIENCE, INTERDISCIPLINARY APPLICATIONS Nature computational science Pub Date : 2025-02-07 DOI:10.1038/s43588-025-00766-0
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引用次数: 0

摘要

在多种族生物库规模的全基因组测序数据中确定罕见变异的多效性关联提出了相当大的挑战。本研究介绍了MultiSTAAR作为一个可扩展和健壮的多性状罕见变异分析框架,通过整合多个变异功能注释和利用跨不同表型的多变量建模,为编码区和非编码区设计。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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MultiSTAAR delivers multi-trait rare variant analysis of biobank-scale sequencing data
Identifying pleiotropic associations for rare variants in multi-ethnic biobank-scale whole-genome sequencing data poses considerable challenges. This study introduced MultiSTAAR as a scalable and robust multi-trait rare variant analysis framework designed for both coding and noncoding regions by integrating multiple variant functional annotations and leveraging multivariate modeling across diverse phenotypes.
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