Applying Functional Assay Evidence to Interpret Sequence Variants Identified in Hereditary Cancer Genes
Author:
Affiliation:
1. Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea
Funder
Quality Control Committee of the Korean Society for Laboratory Medicine
Publisher
Laboratory Medicine Online
Subject
Industrial and Manufacturing Engineering
Link
http://pdf.medrang.co.kr/LMO/2022/012/LMO012-03-145.pdf
Reference105 articles.
1. 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
2. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
3. Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
4. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
5. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants
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