Article

An oligogenic inheritance test detects risk genes and their interactions in congenital heart defects and developmental comorbidities

2022-04-10

Abstract excerpt

Exome sequencing of thousands of families has revealed many individual risk genes for congenital heart defects (CHD), yet most cases cannot be explained by a single causal mutation. Further, those who carry de novo and inherited mutations in known risk genes often demonstrate variable phenotypes even within the same family, indicating the presence of genetic modifiers. To explore oligogenic causes of CHD without...

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Literature Corpus work: a6ca282b-b97f-5c5a-875b-37941f4e1c3f
DOI: 10.1101/2022.04.08.487704

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