ACMG classification of NRAS G12S. (Top) ProteinPaint display of somatic... | Download Scientific Diagram
Consequences on RNA level
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy | Genome Medicine | Full Text
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. | Semantic Scholar
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
ACMG 2019 | Genomenon
ACMG Implementation
Announcing the Release of Mastermind ACMG Interpretation Tool
PDF] ACGS Best Practice Guidelines for Variant Classification 2019 | Semantic Scholar
Cancer SIGVAR: A semi-automated interpretation tool for germline variants of hereditary cancer-related genes | bioRxiv
Current Tools, Databases, and Resources for Phenotype and Variant Analysis of Clinical Exome Sequencing - Advances in Molecular Pathology
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants | Genetics in Medicine
Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing | Circulation
Assessing performance of pathogenicity predictors using clinically relevant variant datasets | Journal of Medical Genetics
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC
Implementing ACMG guidelines on sequence variant interpretation: software-assisted variant curation and filtering
The New VSClinical ACMG Guidelines Tutorial | The Golden Helix Blog
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
Automated Variant Classification in QIAGEN Clinical Insight Shows Near Perfect.. - YouTube
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