GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | bioRxiv
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease | Genetics in Medicine
Hello, ACMG scoreboard. Goodbye, external calculator tools.
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
Proposed adaptation of ACMG/AMP guidelines for rule PM1, relating to... | Download Scientific Diagram
Intelliseq | DNA analysis made simple
ACMG condition and identifier code from Table 1 | Download Table
Quantitative Guidelines for Consegregation Variants – Pantheon of Articles
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
Prevalence and frequencies of gene variants for the 24 ACMG conditions | Download Table
ACMG classification of SOD1 Ala5Val. (Top) ProteinPaint display of... | Download Scientific Diagram
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines - Tavtigian - 2020 - Human Mutation - Wiley Online Library
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework | Genome Medicine | Full Text
Summary of the adapted ACMG/AMP pathogenic and benign criteria | Download Table
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
.png?width=1410&name=Capture1%20(1).png "Hello, ACMG scoreboard. Goodbye, external calculator tools.")
Hello, ACMG scoreboard. Goodbye, external calculator tools.
Pathogenicity Calculator
Hello, ACMG scoreboard. Goodbye, external calculator tools.
CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases - Nicora - 2018 - Human Mutation - Wiley Online Library
ACMG rules engine | ELLA documentation
ACMG Implementation
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC
Introducing VSClinical: Streamlining ACMG Variant Interpretation Guid…
