We propose here a two-locus genome-wide test for detecting digenic inheritance in WES data. ![]() However, only a few digenic disorders have been reported, all discovered by candidate gene approaches applied to at least one locus. ![]() Some monogenic disorders may therefore actually be digenic. Incomplete penetrance and variable expressivity suggest a contribution of additional genetic lesions to clinical manifestations and outcome. Whole-exome sequencing (WES) has facilitated the discovery of genetic lesions underlying monogenic disorders.
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