ACMG practice guidelines: Exome & genome sequencing recommended for certain pediatric patients » PerkinElmer Genomics
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework | Genome Medicine | Full Text
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
Introducing VSClinical: Streamlining ACMG Variant Interpretation Guid…
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Quantitative Guidelines for Consegregation Variants – Pantheon of Articles
Summary of the adapted ACMG/AMP pathogenic and benign criteria | Download Table
ACMG classification of SOD1 Ala5Val. (Top) ProteinPaint display of... | Download Scientific Diagram
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
Refinement of the clinical variant interpretation framework by statistical evidence and machine learning - ScienceDirect
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.
ACMG rules engine | ELLA documentation
Proposed adaptation of ACMG/AMP guidelines for rule PM1, relating to... | Download Scientific Diagram
Practice Guidelines
Intelliseq | DNA analysis made simple
Pathogenicity Calculator
Intelliseq | DNA analysis made simple
ACMG Implementation
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | bioRxiv
Hello, ACMG scoreboard. Goodbye, external calculator tools.
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
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
