Hello, ACMG scoreboard. Goodbye, external calculator tools.
Refinement of the clinical variant interpretation framework by statistical evidence and machine learning - ScienceDirect
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC
.png?width=1410&name=Capture1%20(1).png "Hello, ACMG scoreboard. Goodbye, external calculator tools.")
Hello, ACMG scoreboard. Goodbye, external calculator tools.
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
ACMG Implementation
Summary of the adapted ACMG/AMP pathogenic and benign criteria | Download Table
Quantitative Guidelines for Consegregation Variants – Pantheon of Articles
Stepwise ABC system for classification of any type of genetic variant | European Journal of Human Genetics
Introducing VSClinical: Streamlining ACMG Variant Interpretation Guid…
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework | Genome Medicine | Full Text
ACMG rules engine | ELLA documentation
Prevalence and frequencies of gene variants for the 24 ACMG conditions | Download Table
ACMG condition and identifier code from Table 1 | Download Table
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
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
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
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | bioRxiv
Practice Guidelines
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
Intelliseq | DNA analysis made simple
Hello, ACMG scoreboard. Goodbye, external calculator tools.
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease - Genetics in Medicine
