Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria
K Nykamp, M Anderson, M Powers, J Garcia… - Genetics in …, 2017 - nature.com
Purpose The 2015 American College of Medical Genetics and Genomics–Association for
Molecular Pathology (ACMG–AMP) guidelines were a major step toward establishing a …
Molecular Pathology (ACMG–AMP) guidelines were a major step toward establishing a …
[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 …
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 …
Variant classification concordance using the ACMG-AMP variant interpretation guidelines across nine genomic implementation research studies
LM Amendola, K Muenzen, LG Biesecker… - The American Journal of …, 2020 - cell.com
Harmonization of variant pathogenicity classification across laboratories is important for
advancing clinical genomics. The two CLIA-accredited Electronic Medical Record and …
advancing clinical genomics. The two CLIA-accredited Electronic Medical Record and …
[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 …
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 …
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 …
Clinical interpretation of sequence variants
J Zhang, Y Yao, H He, J Shen - Current protocols in human …, 2020 - Wiley Online Library
Clinical interpretation of DNA sequence variants is a critical step in reporting clinical genetic
testing results. Application of next‐generation sequencing technology in molecular genetic …
testing results. Application of next‐generation sequencing technology in molecular genetic …
The ACMG/AMP reputable source criteria for the interpretation of sequence variants
LG Biesecker, SM Harrison - Genetics in Medicine, 2018 - nature.com
To the Editor: In 2015, the American College of Medical Genetics and Genomics and the
Association for Molecular Pathology (ACMG/AMP) promulgated recommendations for the …
Association for Molecular Pathology (ACMG/AMP) promulgated recommendations for the …