Towards Automation of Germline Variant Curation in Clinical Cancer Genetics

PURPOSE: Cancer care professionals are confronted with interpreting results from multiplexed gene sequencing of patients at hereditary risk for cancer. Assessments for variant classification now require orthogonal data searches and aggregation of multiple lines of evidence from diverse resources. Th...

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Publicat a:Genet Med
Autors principals: Ravichandran, Vignesh, Shameer, Zarina, Kemel, Yelena, Walsh, Michael, Cadoo, Karen, Lipkin, Steven, Mandelker, Diana, Zhang, Liying, Stadler, Zsofia, Robson, Mark, Offit, Kenneth, Joseph, Vijai
Format: Artigo
Idioma:Inglês
Publicat: 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6703969/
https://ncbi.nlm.nih.gov/pubmed/30787465
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0463-8
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