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Article

Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data.

American journal of human genetics - 6 Mar 2025

Kars Meltem Ece, Stein David, Stenson Peter D, Cooper David N, Chung Wendy K, Gruber Peter J, Seidman Christine E, Shen Yufeng, Tristani-Firouzi Martin, Gelb Bruce D, Itan Yuval

Abstract excerpt

Congenital heart disease (CHD) is the most common congenital anomaly and a leading cause of infant morbidity and mortality. Despite extensive exploration of the monogenic causes of CHD over the last decades, ∼55% of cases still lack a molecular diagnosis. Investigating digenic interactions, the simplest form of oligogenic interactions, using high-throughput sequencing data can elucidate additional genetic factors...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39983722
DOI: 10.1016/j.ajhg.2025.01.024
PMCID: PMC11947165

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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