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Article

A genome-wide case-only test for the detection of digenic inheritance in human exomes.

Proceedings of the National Academy of Sciences of the United States of America - 11 Aug 2020

Kerner Gaspard, Bouaziz Matthieu, Cobat Aurélie, Bigio Benedetta, Timberlake Andrew T, Bustamante Jacinta, Lifton Richard P, Casanova Jean-Laurent, Abel Laurent

Abstract excerpt

Whole-exome sequencing (WES) has facilitated the discovery of genetic lesions underlying monogenic disorders. Incomplete penetrance and variable expressivity suggest a contribution of additional genetic lesions to clinical manifestations and outcome. Some monogenic disorders may therefore actually be digenic. However, only a few digenic disorders have been reported, all discovered by candidate gene approaches...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32719112
DOI: 10.1073/pnas.1920650117
PMCID: PMC7430978

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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