HRDetect

[PMID:28288110] [Nature Methods]

HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures

“Recently, somatic substitution, insertion/deletion and rearrangement patterns, or ‘mutational signatures’, were associated with BRCA1/BRCA2 dysfunction. Herein we used a lasso logistic regression model to identify six distinguishing mutational signatures predictive of BRCA1/BRCA2 deficiency. A weighted model called HRDetect was developed to accurately detect BRCA1/BRCA2-deficient samples.”

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