Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
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DOI: 10.1186/s13073-019-0683-1
Abstract: BackgroundThe 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… read more here.
Keywords: functional assays; vcep; evidence; curation expert ... See more keywords