genomize-Seq's Pathogenicity Classification For Variants - Genomize
ACMG Implementation
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
.png?width=1410&name=Capture1%20(1).png "Hello, ACMG scoreboard. Goodbye, external calculator tools.")
Hello, ACMG scoreboard. Goodbye, external calculator tools.
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | bioRxiv
PDF) Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
.png?noresize&width=550&name=ACMG%20scoreboard%20image%20(1).png "NxClinical's ACMG scoreboard")
NxClinical's ACMG scoreboard
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
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
Hello, ACMG scoreboard. Goodbye, external calculator tools.
ACMG condition and identifier code from Table 1 | Download Table
ACMG classification on ETV6. (Top) ProteinPaint display of somatic ETV6... | Download Scientific Diagram
ClinGen Pathogenicity Calculator: Use case GLA
(PDF) ClinGen Pathogenicity Calculator: A configurable system for assessing pathogenicity of genetic variants
Stepwise ABC system for classification of any type of genetic variant | European Journal of Human Genetics
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel - Kountouris - 2022 - Human Mutation - Wiley Online Library
Frontiers | Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics
