Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program

The study aimed to identify new associations between rare genetic variants and risk for venous thromboembolism (VTE) using whole genome sequencing. The study identified associations at 5 known loci and found that using different filtering strategies improved the signal for some genes. The gene-based approach identified PROC as the only significant gene, while a novel gene, MS4A1, became significant when using all missense variants with minor allele frequency <0.0005. The study highlights the importance of using multiple variant filtering strategies to identify new genetic associations with VTE.