Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines
Recently, we demonstrated that the qualitative American College of Medical Genetics and
Genomics/Association for Medical Pathology (ACMG/AMP) guidelines for evaluation of …
Genomics/Association for Medical Pathology (ACMG/AMP) guidelines for evaluation of …
[HTML][HTML] Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
Abstract Purpose We evaluated the American College of Medical Genetics and
Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity …
Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity …
[HTML][HTML] Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
Summary Recommendations from the American College of Medical Genetics and Genomics
and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence variants …
and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence variants …
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks
SE Brnich, EA Rivera‐Muñoz, JS Berg - Human mutation, 2018 - Wiley Online Library
Additional variant interpretation tools are required to effectively harness genomic
sequencing for clinical applications. The American College of Medical Genetics and …
sequencing for clinical applications. The American College of Medical Genetics and …
Overview of specifications to the ACMG/AMP variant interpretation guidelines
SM Harrison, LG Biesecker… - Current protocols in …, 2019 - Wiley Online Library
The 2015 ACMG/AMP guidelines established a classification system for sequence variants;
however, the broad scope of these guidelines necessitates specification of evidence types …
however, the broad scope of these guidelines necessitates specification of evidence types …
[HTML][HTML] Expanding ACMG variant classification guidelines into a general framework
Abstract Background The American College of Medical Genetics and Genomics (ACMG)-
recommended five variant classification categories (pathogenic, likely pathogenic, uncertain …
recommended five variant classification categories (pathogenic, likely pathogenic, uncertain …
Updated recommendation for the benign stand‐alone ACMG/AMP criterion
Abstract The Clinical Genome Resource (ClinGen) Sequence Variant Interpretation Working
Group set out to refine the American College of Medical Genetics and Genomics and the …
Group set out to refine the American College of Medical Genetics and Genomics and the …
[HTML][HTML] Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
Abstract Background The American College of Medical Genetics and American College of
Pathologists (ACMG/AMP) variant classification guidelines for clinical reporting are widely …
Pathologists (ACMG/AMP) variant classification guidelines for clinical reporting are widely …
[HTML][HTML] Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
SE Brnich, AN Abou Tayoun, FJ Couch, GR Cutting… - Genome medicine, 2020 - Springer
Abstract Background The American College of Medical Genetics and Genomics
(ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines …
(ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines …
[HTML][HTML] Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic
evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult …
evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult …