Article

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

2020-02-07

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 appl...

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Literature Corpus work: 9e8d6f6e-2c24-511d-ac20-221212ec4842
DOI: 10.1101/2020.02.06.936922

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