ClinGen Pathogenicity Calculator: Use case GLA
ACMG condition and identifier code from Table 1 | Download Table
ACMG classification on ETV6. (Top) ProteinPaint display of somatic ETV6... | Download Scientific Diagram
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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
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
PDF) Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
Hello, ACMG scoreboard. Goodbye, external calculator tools.
Pathogenicity Calculator
Introducing VSClinical: Streamlining ACMG Variant Interpretation Guid…
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
Frontiers | Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases - Nicora - 2018 - Human Mutation - Wiley Online Library
genomize-Seq's Pathogenicity Classification For Variants - Genomize
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | bioRxiv
Refinement of the clinical variant interpretation framework by statistical evidence and machine learning - ScienceDirect
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines - Tavtigian - 2020 - Human Mutation - Wiley Online Library
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants - ScienceDirect
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
