ATM variant classification proposed criteria. | Download Scientific Diagram
ClinGen General Sequence Variant Curation Process
QCI Interpret July 13 2018 Release Notes.pages
Dead Rising 2: Off The Record for PlayStation 3
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
Leveraging expert-curated variant interpretations using VSClinical
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease | Genetics in Medicine
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 ...
Interpretation of Sequence Variants
Use of the PS3/BS3 criteria in Variant Curation Expert Panel (VCEP)... | Download Scientific Diagram
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease - ScienceDirect
ACMG & ACGS guidelines Part 5: Functional data
Frontiers | An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China
Decision tree for the evaluation of functional data for clinical... | Download Scientific Diagram
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GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
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
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
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework | Genome Medicine | Full Text
The current state of clinical interpretation of sequence variants. | Semantic Scholar
Physical Science Standards
PS3 *SEPARATED DRAFT* MS Physical Science NM Science Instructional Scope.docx
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
