Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

ABSTRACT:

Background

The 2015 American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence variant interpretation state that "well-established" functional studies can be used as evidence in variant classification. These guidelines articulated key attributes of functional data, including that assays should reflect the biological environment and be analytically sound; however, details of how to evaluate these attributes were left to expert judgment. The Clinical Genome Resource (ClinGen) designates Variant Curation Expert Panels (VCEPs) in specific disease areas to make gene-centric specifications to the ACMG/AMP guidelines, including more specific definitions of appropriate functional assays. We set out to evaluate

SUBMITTER: Kanavy DM 

PROVIDER: S-EPMC6884856 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature