Article
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
Nature communications - 17 Oct 2019
Watkins W Scott, Hernandez E Javier, Wesolowski Sergiusz, Bisgrove Brent W, Sunderland Ryan T, Lin Edwin, Lemmon Gordon, Demarest Bradley L, Miller Thomas A, Bernstein Daniel, Brueckner Martina, Chung Wendy K, Gelb Bruce D, Goldmuntz Elizabeth, Newburger Jane W, Seidman Christine E, Shen Yufeng, Yost H Joseph, Yandell Mark, Tristani-Firouzi Martin
Abstract excerpt
The genetic architecture of sporadic congenital heart disease (CHD) is characterized by enrichment in damaging de novo variants in chromatin-modifying genes. To test the hypothesis that gene pathways contributing to de novo forms of CHD are distinct from those for recessive forms, we analyze 2391 whole-exome trios from the Pediatric Cardiac Genomics Consortium. We deploy a permutation-based gene-burden analysis...
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