ACMG condition and identifier code from Table 1 | Download Table
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
.png?width=1410&name=Capture1%20(1).png "Hello, ACMG scoreboard. Goodbye, external calculator tools.")
Hello, ACMG scoreboard. Goodbye, external calculator tools.
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants | Genetics in Medicine
CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases - Nicora - 2018 - Human Mutation - Wiley Online Library
Frontiers | Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics
Introducing VSClinical: Streamlining ACMG Variant Interpretation Guid…
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC
.png?noresize&width=550&name=ACMG%20scoreboard%20image%20(1).png "NxClinical's ACMG scoreboard")
NxClinical's ACMG scoreboard
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel - Kountouris - 2022 - Human Mutation - Wiley Online Library
genomize-Seq's Pathogenicity Classification For Variants - Genomize
Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants - ScienceDirect
PDF) Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants - ScienceDirect
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | bioRxiv
Whole exome analysis in clinical diagnostics - Do you need more than 15 min?
Proposed adaptation of ACMG/AMP guidelines for rule PM1, relating to... | Download Scientific Diagram
Refinement of the clinical variant interpretation framework by statistical evidence and machine learning - ScienceDirect
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease | Genetics in Medicine
ACMG classification on ETV6. (Top) ProteinPaint display of somatic ETV6... | Download Scientific Diagram
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
Hello, ACMG scoreboard. Goodbye, external calculator tools.
Pathogenicity Calculator
(PDF) ClinGen Pathogenicity Calculator: A configurable system for assessing pathogenicity of genetic variants
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
