Genes | Free Full-Text | SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines
ACMG & ACGS guidelines Part 5: Functional data
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss | Scientific Reports
ATM variant classification proposed criteria. | Download Scientific Diagram
The current state of clinical interpretation of sequence variants. | Semantic Scholar
QCI Interpret July 13 2018 Release Notes.pages
Use of the PS3/BS3 criteria in Variant Curation Expert Panel (VCEP)... | Download Scientific Diagram
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
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Genes | Free Full-Text | Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting
PDF) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
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
Decision tree for the evaluation of functional data for clinical... | Download Scientific Diagram
Leveraging expert-curated variant interpretations using VSClinical
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
Validation and clinical application of transactivation assays for RUNX1 variant classification - 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
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Leveraging expert-curated variant interpretations using VSClinical
Detailed criteria for functional evidences PS3 and BS3 based on RNA... | Download Scientific Diagram
Recommendations on the use of functional studies for variant interpretation - YouTube
Flow chart for the specifications of PS3 and BS3 criteria.... | Download Scientific Diagram
