Article
Functional analysis of BRCA1 RING domain variants: computationally derived structural data can improve upon experimental features for training predictive models.
Integrative biology : quantitative biosciences from nano to macro - 30 Sept 2020
Masso Majid
Abstract excerpt
Advancements in the interpretation of variants of unknown significance are critical for improving clinical outcomes. In a recent study, massive parallel assays were used to experimentally quantify the effects of missense substitutions in the RING domain of BRCA1 on E3 ubiquitin ligase activity as well as BARD1 RING domain binding. These attributes were subsequently used for training a predictive model of...
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