期刊
GENOME BIOLOGY
卷 21, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s13059-020-02125-w
关键词
Integrative genomics; Multi-omics; GWAS; Omics QTL; Molecular mechanisms; Conditional association analysis; Pleiotropy
资金
- National Institutes of Health (NIH) [R01GM108711, 2R01GM108711]
- Susan G. Komen (R) [GTDR16376189]
- NIH [2R01GM108711]
- [SUB-U24 CA2109993]
To provide a comprehensive mechanistic interpretation of how known trait-associated SNPs affect complex traits, we propose a method, Primo, for integrative analysis of GWAS summary statistics with multiple sets of omics QTL summary statistics from different cellular conditions or studies. Primo examines association patterns of SNPs to complex and omics traits. In gene regions harboring known susceptibility loci, Primo performs conditional association analysis to account for linkage disequilibrium. Primo allows for unknown study heterogeneity and sample correlations. We show two applications using Primo to examine the molecular mechanisms of known susceptibility loci and to detect and interpret pleiotropic effects.
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