Whole exome analysis in clinical diagnostics - Do you need more than 15 min?
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants | Genome Medicine | Full Text
Pathogenicity Calculator
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants - ScienceDirect
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
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
Frontiers | Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease - ScienceDirect
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ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants | Genetics in Medicine
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 the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel - Kountouris - 2022 - Human Mutation - Wiley Online Library
Implementation of ACMG Guidelines Whitepaper
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genomize-Seq's Pathogenicity Classification For Variants - Genomize
.png?width=1410&name=Capture1%20(1).png "Hello, ACMG scoreboard. Goodbye, external calculator tools.")
Hello, ACMG scoreboard. Goodbye, external calculator tools.
Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants - ScienceDirect
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
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
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The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
The new ACMG calculator in varvis® | by Yvonne Kasmann | Limbus News
