Association of structural variation with cardiometabolic traits in Finns

The contribution of genome structural variation (SV) to quantitative traits associated with cardiometabolic diseases remains largely unknown. Here, we present the results of a study examining genetic association between SVs and cardiometabolic traits in the Finnish population. We used sensitive methods to identify and genotype 129,166 high-confidence SVs from deep whole-genome sequencing (WGS) data of 4,848 individuals. We tested the 64,572 common and low-frequency SVs for association with 116 quantitative traits and tested candidate associations using exome sequencing and array genotype data from an additional 15,205 individuals.

Source: The American Journal of Human Genetics - April 1, 2021 Category: Genetics & Stem Cells Authors: Lei Chen, Haley J. Abel, Indraniel Das, David E. Larson, Liron Ganel, Krishna L. Kanchi, Allison A. Regier, Erica P. Young, Chul Joo Kang, Alexandra J. Scott, Colby Chiang, Xinxin Wang, Shuangjia Lu, Ryan Christ, Susan K. Service, Charleston W.K. Chiang, Tags: Article Source Type: research