Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.

ABSTRACT: Laterality defects are defined by perturbations in the usual left-right asymmetry of organs. The genetic etiology that underlies congenital heart disease (CHD) is often unknown (less than 40%), so we used a digenic model approach for the identification of contributing variants in known laterality-defect-associated genes (n = 115) in the exome/genome sequencing (ES/GS) data from individuals with clinically diagnosed laterality defects. The unsolved ES/GS data were analyzed from three CHD cohorts: Baylor College of Medicine-Genomics Research to Elucidate the Genetics of Rare Diseases (BCM-GREGoR; n= 251 proband ES), Gabriella Miller Kids First Pediatric Research Program (Kids First; n = 158 trio GS), and Pediatric Cardiac Genomics Consortium (PCGC; n = 163 trio ES). trans-heterozygous digeni

SUBMITTER: Rai A 

PROVIDER: S-EPMC12256918 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature