Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
Maria Zanti, Denise G O'Mahony, Michael T. Parsons…·Gary Zirpoli
The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.
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