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

ABSTRACT:

Background

Risk for venous thromboembolism has a strong genetic component. Whole genome sequencing from the TOPMed program (Trans-Omics for Precision Medicine) allowed us to look for new associations, particularly rare variants missed by standard genome-wide association studies.

Methods

The 3793 cases and 7834 controls (11.6% of cases were individuals of African, Hispanic/Latino, or Asian ancestry) were analyzed using a single variant approach and an aggregate gene-based approach using our primary filter (included only loss-of-function and missense variants predicted to be deleterious) and our secondary filter (included all missense variants).

Results

Single variant analyses identified associations at 5 known loci. Aggregate gene-based analyses identified only PROC

SUBMITTER: Seyerle AA 

PROVIDER: S-EPMC10151032 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature