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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