ACMG Implementation
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | bioRxiv
.png?width=1410&name=Capture1%20(1).png "Hello, ACMG scoreboard. Goodbye, external calculator tools.")
Hello, ACMG scoreboard. Goodbye, external calculator tools.
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease - Genetics in Medicine
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
ACMG condition and identifier code from Table 1 | Download Table
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
Pathogenicity Calculator
Quantitative Guidelines for Consegregation Variants – Pantheon of Articles
Intelliseq | DNA analysis made simple
ACMG practice guidelines: Exome & genome sequencing recommended for certain pediatric patients » PerkinElmer Genomics
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
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
CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases - Nicora - 2018 - Human Mutation - Wiley Online Library
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
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
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease | Genetics in Medicine
Hello, ACMG scoreboard. Goodbye, external calculator tools.
Introducing VSClinical: Streamlining ACMG Variant Interpretation Guid…
