Article

Accurate functional classification of thousands of <i>BRCA1</i> variants with saturation genome editing

2018-04-05

Abstract excerpt

Variants of uncertain significance (VUS) fundamentally limit the utility of genetic information in a clinical setting. The challenge of VUS is epitomized by BRCA1 , a tumor suppressor gene integral to DNA repair and genomic stability. Germline BRCA1 loss-of-function (LOF) variants predispose women to early-onset breast and ovarian cancers. Although BRCA1 has been sequenced in millions of women, the risk associa...

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Literature Corpus work: 2c253f4e-467e-5440-b86a-58f233d1d743
DOI: 10.1101/294520

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