Ontology highlight
ABSTRACT:
SUBMITTER: Walsh MF
PROVIDER: S-EPMC6310222 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Walsh Michael F MF Ritter Deborah I DI Kesserwan Chimene C Sonkin Dmitriy D Chakravarty Debyani D Chao Elizabeth E Ghosh Rajarshi R Kemel Yelena Y Wu Gang G Lee Kristy K Kulkarni Shashikant S Hedges Dale D Mandelker Diana D Ceyhan-Birsoy Ozge O Luo Minjie M Drazer Michael M Zhang Liying L Offit Kenneth K Plon Sharon E SE
Human mutation 20181101 11
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. The Clinical Genome Resource (ClinGen) established a multidisciplinary working group, the Germline/Somatic Variant Subcommittee (GSVS) with this focus. The GSVS implemented a survey to determine curren ...[more]