Hello, ACMG scoreboard. Goodbye, external calculator tools.
ACMG condition and identifier code from Table 1 | Download Table
.png?width=1410&name=Capture1%20(1).png "Hello, ACMG scoreboard. Goodbye, external calculator tools.")
Hello, ACMG scoreboard. Goodbye, external calculator tools.
Summary of the adapted ACMG/AMP pathogenic and benign criteria | Download Table
Intelliseq | DNA analysis made simple
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease | Genetics in Medicine
Stepwise ABC system for classification of any type of genetic variant | European Journal of Human Genetics
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Intelliseq | DNA analysis made simple
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants | Genetics in Medicine
Prevalence and frequencies of gene variants for the 24 ACMG conditions | Download Table
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
Proposition of adjustments to the ACMG‐AMP framework for the interpretation of MEN1 missense variants - Romanet - 2019 - Human Mutation - Wiley Online Library
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework | Genome Medicine | Full Text
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC
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
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
ACMG Implementation
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines - Tavtigian - 2020 - Human Mutation - Wiley Online Library
