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Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort

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 to t...

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Principais autores: James Casaletto, Michael Parsons, Charles Markello, Yusuke Iwasaki, Yukihide Momozawa, Amanda B. Spurdle, Melissa Cline
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2022-03-01
coleção:Cell Genomics
Assuntos:
Variant of uncertain significance
federated computing
variant classification
benign
pathogenic
data privacy
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S2666979X22000295
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