ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
genomize-Seq's Pathogenicity Classification For Variants - Genomize
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines - Tavtigian - 2020 - Human Mutation - Wiley Online Library
Intelliseq | DNA analysis made simple
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants - ScienceDirect
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants | Genetics in Medicine
Stepwise ABC system for classification of any type of genetic variant | European Journal of Human Genetics
Proposed adaptation of ACMG/AMP guidelines for rule PM1, relating to... | Download Scientific Diagram
ClinGen Pathogenicity Calculator: Use case GLA
Frontiers | Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics
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
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease | Genetics in Medicine
Introducing VSClinical: Streamlining ACMG Variant Interpretation Guid…
PDF) Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
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
Refinement of the clinical variant interpretation framework by statistical evidence and machine learning - ScienceDirect
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | bioRxiv
ACMG Implementation
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel - Kountouris - 2022 - 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 Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
