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Article

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Genome medicine - 15 Jan 2020

Sevim Bayrak Cigdem, Zhang Peng, Tristani-Firouzi Martin, Gelb Bruce D, Itan Yuval

Abstract excerpt

BACKGROUND: Congenital heart disease (CHD) affects ~ 1% of live births and is the most common birth defect. Although the genetic contribution to the CHD has been long suspected, it has only been well established recently. De novo variants are estimated to contribute to approximately 8% of sporadic CHD. METHODS: CHD is genetically heterogeneous, making pathway enrichment analysis an effective approach to explore...

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Identifiers

PMID: 31941532
DOI: 10.1186/s13073-019-0709-8
PMCID: PMC6961332

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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