Saturation genome editing of BRCA1 across cell types improves interpretation of variant pathogenicity.
Germline pathogenic BRCA1 variants predispose women to breast and ovarian cancer. Despite accumulation of functional evidence, over half of reported single-nucleotide variants in BRCA1 lack a definitive clinical interpretation. Furthermore, the consistency of variant effects across cell types remains largely unexplored...
Phoebe Dace, Nicole M. Forrester, Maria Zanti et al.
· Nature Genetics · 0 citations