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Findlay2018_brctdomain.md

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Comparing SGE functional scores and CADD scores for the BRCA1 BRCT domain

Findlay et al., (2018) performed a saturation genome editing (SGE) assay for BRCA1 function. Here we display the results for SGE and CADD for the BRCT domain of BRCA1.

At the mutation level, we show the CADD scores and the functional scores for each available variant. These scores are inversely related; deleterious mutations should have a high CADD score and a low SGE functional score. We averaged the SGE functional scores for synonymous variants at a given site.

At the site level, we show either the mean and median functional or CADD scores for a given site.

See the original paper for more details. Findlay et al., 2018 also measured the functional scores for the BRCA1 RING domain. You can see those results HERE.