Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC
Introducing VSClinical: Streamlining ACMG Variant Interpretation Guid…
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
genomize-Seq's Pathogenicity Classification For Variants - Genomize
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
.png?width=1410&name=Capture1%20(1).png "Hello, ACMG scoreboard. Goodbye, external calculator tools.")
Hello, ACMG scoreboard. Goodbye, external calculator tools.
Hello, ACMG scoreboard. Goodbye, external calculator tools.
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
ACMG condition and identifier code from Table 1 | Download Table
CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases - Nicora - 2018 - Human Mutation - Wiley Online Library
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel - Kountouris - 2022 - Human Mutation - Wiley Online Library
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants - ScienceDirect
Frontiers | Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | bioRxiv
Proposed adaptation of ACMG/AMP guidelines for rule PM1, relating to... | Download Scientific Diagram
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines - Tavtigian - 2020 - Human Mutation - Wiley Online Library
Abbreviations ACMG: American college of medical genetics; AMP:... | Download Scientific Diagram
Whole exome analysis in clinical diagnostics - Do you need more than 15 min?
ACMG classification on ETV6. (Top) ProteinPaint display of somatic ETV6... | Download Scientific Diagram
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease | Genetics in Medicine
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
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
PDF) Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
Stepwise ABC system for classification of any type of genetic variant | European Journal of Human Genetics
Hello, ACMG scoreboard. Goodbye, external calculator tools.
.png?noresize&width=550&name=ACMG%20scoreboard%20image%20(1).png "NxClinical's ACMG scoreboard")