Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort

• Main Authors: James Casaletto (Author), Michael Parsons (Author), Charles Markello (Author), Yusuke Iwasaki (Author), Yukihide Momozawa (Author), Amanda B. Spurdle (Author), Melissa Cline (Author)
• Format: Book
• Published: Elsevier, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary: More than 40% of the germline variants in ClinVar today are variants of uncertain significance (VUSs). These variants remain unclassified in part because the patient-level data needed for their interpretation is siloed. Federated analysis can overcome this problem by "bringing the code...