Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.

ABSTRACT:

Background

Rare genetic variation provided by whole genome sequence datasets has been relatively less explored for its contributions to human traits. Meta-analysis of sequencing data offers advantages by integrating larger sample sizes from diverse cohorts, thereby increasing the likelihood of discovering novel insights into complex traits. Furthermore, emerging methods in genome-wide rare variant association testing further improve power and interpretability.

Results

Here, we conduct the largest meta-analysis of whole genome sequencing for low-density lipoprotein cholesterol (LDL-C), a therapeutic target for coronary artery disease, analyzing data from 246 K participants and integrating 1.23B variants from the UK Biobank and the Trans-Omics for Precision Medicine (TOPMed) p

SUBMITTER: Selvaraj MS 

PROVIDER: S-EPMC12418676 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature