subRVIS

[PMID:26781712] [Genome Biology]

The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes

“evaluate the intolerance of genic sub-regions using two biological sub-region classifications. We show that the intolerance scores of these sub-regions significantly correlate with reported pathogenic mutations. This observation extends the utility of intolerance scores to indicating where pathogenic mutations are mostly likely to fall within genes.”

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