Integrating Somatic Variant Data and Biomarkers for Germline Variant Classification in Cancer Predisposition Genes

In its landmark paper about Standards and Guidelines for the Interpretation of Sequence Variants, the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) did not address how to use tumor data when assessing the pathogenicity of germline variants. Th...

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Publicado no:Hum Mutat
Main Authors: Walsh, Michael F., Ritter, Deborah I., Kesserwan, Chimene, Sonkin, Dmitriy, Chakravarty, Debyani, Chao, Elizabeth, Ghosh, Rajarshi, Kemel, Yelena, Wu, Gang, Lee, Kristy, Kulkarni, Shashi, Hedges, Dale, Mandelker, Diana, Ceyhan-Birsoy, Ozge, Luo, Minjie, Drazer, Michael, Zhang, Liying, Offit, Kenneth, Plon, Sharon E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6310222/
https://ncbi.nlm.nih.gov/pubmed/30311369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23640
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