.png?width=1410&name=Capture1%20(1).png "Hello, ACMG scoreboard. Goodbye, external calculator tools.")
Hello, ACMG scoreboard. Goodbye, external calculator tools.
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
Pathogenicity Calculator
CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases - Nicora - 2018 - Human Mutation - Wiley Online Library
Intelliseq | DNA analysis made simple
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
Introducing VSClinical: Streamlining ACMG Variant Interpretation Guid…
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework | Genome Medicine | Full Text
ACMG classification of SOD1 Ala5Val. (Top) ProteinPaint display of... | Download Scientific Diagram
ACMG Implementation
ACMG practice guidelines: Exome & genome sequencing recommended for certain pediatric patients » PerkinElmer Genomics
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
Prevalence and frequencies of gene variants for the 24 ACMG conditions | Download Table
Hello, ACMG scoreboard. Goodbye, external calculator tools.
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
Summary of the adapted ACMG/AMP pathogenic and benign criteria | Download Table
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
Stepwise ABC system for classification of any type of genetic variant | European Journal of Human Genetics
Hello, ACMG scoreboard. Goodbye, external calculator tools.
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease | 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
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
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
