Article
Somatic cancer variant curation and harmonization through consensus minimum variant level data.
Genome medicine - 4 Nov 2016
Ritter Deborah I, Roychowdhury Sameek, Roy Angshumoy, Rao Shruti, Landrum Melissa J, Sonkin Dmitriy, Shekar Mamatha, Davis Caleb F, Hart Reece K, Micheel Christine, Weaver Meredith, Van Allen Eliezer M, Parsons Donald W, McLeod Howard L, Watson Michael S, Plon Sharon E, Kulkarni Shashikant, Madhavan Subha
Abstract excerpt
BACKGROUND: To truly achieve personalized medicine in oncology, it is critical to catalog and curate cancer sequence variants for their clinical relevance. The Somatic Working Group (WG) of the Clinical Genome Resource (ClinGen), in cooperation with ClinVar and multiple cancer variant curation stakeholders, has developed a consensus set of minimal variant level data (MVLD). MVLD is a framework of standardized...
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