.png?width=1410&name=Capture1%20(1).png "Hello, ACMG scoreboard. Goodbye, external calculator tools.")
Hello, ACMG scoreboard. Goodbye, external calculator tools.
Quantitative Guidelines for Consegregation Variants – Pantheon of Articles
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
Refinement of the clinical variant interpretation framework by statistical evidence and machine learning - ScienceDirect
Stepwise ABC system for classification of any type of genetic variant | European Journal of Human Genetics
ACMG Implementation
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants | Genetics in Medicine
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
Hello, ACMG scoreboard. Goodbye, external calculator tools.
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
Hello, ACMG scoreboard. Goodbye, external calculator tools.
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease | 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
Proposition of adjustments to the ACMG‐AMP framework for the interpretation of MEN1 missense variants - Romanet - 2019 - Human Mutation - Wiley Online Library
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants | Genetics in Medicine
ACMG rules engine | ELLA documentation
ACMG condition and identifier code from Table 1 | Download Table
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | bioRxiv
Prevalence and frequencies of gene variants for the 24 ACMG conditions | Download Table
Intelliseq | DNA analysis made simple
Practice Guidelines
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel | Genetics in Medicine
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines - Tavtigian - 2020 - Human Mutation - Wiley Online Library
