The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice
Author:
Funder
National Institute of Child Health and Human Development
National Human Genome Research Institute
Publisher
Elsevier BV
Subject
Genetics (clinical)
Reference33 articles.
1. Guidelines for investigating causality of sequence variants in human disease;MacArthur;Nature,2014
2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015
3. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework;Brnich;Genome Med,2019
4. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation;Rivera-Muñoz;Hum Mutat,2018
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