Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework | Genome Medicine | Full Text
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Navigating the nuances of clinical sequence variant interpretation in Mendelian disease | Genetics in Medicine
Flow chart for the specifications of PS3 and BS3 criteria.... | Download Scientific Diagram
Flow chart for the specifications of PS3 and BS3 criteria.... | Download Scientific Diagram
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Decision tree for the evaluation of functional data for clinical... | Download Scientific Diagram
The current state of clinical interpretation of sequence variants. | Semantic Scholar
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ATM variant classification proposed criteria. | Download Scientific Diagram
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PDF) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
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Use of the PS3/BS3 criteria in Variant Curation Expert Panel (VCEP)... | Download Scientific Diagram
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC ...
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Frontiers | Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight BRCA1 variants of uncertain significance by integrating available functional data with protein interaction assays
Validation and clinical application of transactivation assays for RUNX1 variant classification - ScienceDirect
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework | Genome Medicine | Full Text
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Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks - Brnich - 2018 - Human Mutation - Wiley Online Library
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 | Genetics in Medicine
