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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
Genes | Free Full-Text | Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting
Flow chart for the specifications of PS3 and BS3 criteria.... | Download Scientific Diagram
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease | Genetics in Medicine
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease - ScienceDirect
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
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework | Genome Medicine | Full Text
Use of the PS3/BS3 criteria in Variant Curation Expert Panel (VCEP)... | Download Scientific Diagram
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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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
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels | medRxiv
PS3 *SEPARATED DRAFT* MS Physical Science NM Science Instructional Scope.docx
Recommendations on the use of functional studies for variant interpretation - YouTube
Genes | Free Full-Text | SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines
Frontiers | An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China
Amazon.com: Capcom Dead Rising 2: Off The Record (PS3) : Video Games
Dead Rising 2: Off The Record for PlayStation 3
PDF) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
Interpretation of Sequence Variants
Leveraging expert-curated variant interpretations using VSClinical
ACMG & ACGS guidelines Part 5: Functional data
