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Article

The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.

Genome research - 3 Feb 2026

Pittman Maureen, Lee Kihyun, Felix Franco, Huang Yu, Lam Adrienne, Costa Mauro W, Srivastava Deepak, Pollard Katherine S

Abstract excerpt

Exome sequencing of thousands of families has revealed many risk genes for congenital heart defects (CHDs), yet most cases cannot be explained by a single causal mutation. Even within the same family, individuals carrying a particular mutation in a known risk gene often demonstrate variable phenotypes, suggesting the presence of genetic modifiers. To explore oligogenic causes of CHD without assessing billions of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41386981
DOI: 10.1101/gr.281141.125
PMCID: PMC12863180

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

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