Leveraging expert-curated variant interpretations using VSClinical
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Recommendations on the use of functional studies for variant interpretation - YouTube
Decision tree for the evaluation of functional data for clinical... | Download Scientific Diagram
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
ACMG & ACGS guidelines Part 5: Functional data
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels | medRxiv
PDF) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
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Flow chart for the specifications of PS3 and BS3 criteria.... | Download Scientific Diagram
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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
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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ATM variant classification proposed criteria. | Download Scientific Diagram
Leveraging expert-curated variant interpretations using VSClinical
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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Dead Rising 2: Off The Record for PlayStation 3
Use of the PS3/BS3 criteria in Variant Curation Expert Panel (VCEP)... | Download Scientific Diagram
The current state of clinical interpretation of sequence variants. | Semantic Scholar
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss | Scientific Reports
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
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
