Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.

ABSTRACT: Variants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the functional effects of thousands of genomic variants are assessed simultaneously, are increasingly generating data that can be used as additional evidence for or against variant pathogenicity. Such assays have the potential to resolve variants of uncertain significance, thereby increasing the clinical utility of genomic testing. Existing standards from the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) and new guidelines from the Clinical Genome Resource (ClinGen) establish the role of functional data in variant interpretation, but do not address the specific challenges or advantages of using functional data der

SUBMITTER: Gelman H 

PROVIDER: S-EPMC6925490 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature