ArticlemedRxiv : the preprint server for health sciences2024
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.
Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Laterality defects are defined by perturbations in the usual left-right asymmetry of organs. Due to low known genetic etiology of congenital heart disease (CHD) cases (less than 40%), we used a digenic model approach for the identification of contributing variants in known laterality defect 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 = 247 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), and trans-heterozygous digenic variants were identified in 2.8% (inherited digenic variants in 0.4%), 8.2%, and 13.5% cases respectively, which was significantly higher as compared to 602 control trios provided by the 1000 Genomes Project
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