(PDF) ClinGen Pathogenicity Calculator: A configurable system for assessing pathogenicity of genetic variants
genomize-Seq's Pathogenicity Classification For Variants - Genomize
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants - ScienceDirect
Refinement of the clinical variant interpretation framework by statistical evidence and machine learning - ScienceDirect
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
ACMG condition and identifier code from Table 1 | Download Table
ACMG Implementation
Introducing VSClinical: Streamlining ACMG Variant Interpretation Guid…
Estimating the proportion of pathogenic variants from breast cancer case–control data: Application to calibration of ACMG/AMP variant classification criteria - James - - Human Mutation - Wiley Online Library
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
Intelliseq | DNA analysis made simple
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease - ScienceDirect
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines - Tavtigian - 2020 - Human Mutation - Wiley Online Library
ACMG classification on ETV6. (Top) ProteinPaint display of somatic ETV6... | Download Scientific Diagram
Abbreviations ACMG: American college of medical genetics; AMP:... | Download Scientific Diagram
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC
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
Implementation of ACMG Guidelines Whitepaper
.png?width=1410&name=Capture1%20(1).png "Hello, ACMG scoreboard. Goodbye, external calculator tools.")
Hello, ACMG scoreboard. Goodbye, external calculator tools.
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
ClinGen Pathogenicity Calculator: Use case GLA
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | bioRxiv
Hello, ACMG scoreboard. Goodbye, external calculator tools.
Hello, ACMG scoreboard. Goodbye, external calculator tools.
PDF) Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
