Integrative approaches for large-scale transcriptome-wide association studies

A Gusev, A Ko, H Shi, G Bhatia, W Chung… - Nature …, 2016 - nature.com
Many genetic variants influence complex traits by modulating gene expression, thus altering
the abundance of one or multiple proteins. Here we introduce a powerful strategy that
integrates gene expression measurements with summary association statistics from large-
scale genome-wide association studies (GWAS) to identify genes whose cis-regulated
expression is associated with complex traits. We leverage expression imputation from
genetic data to perform a transcriptome-wide association study (TWAS) to identify significant …
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