Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines.

Human mutation - 1 Oct 2020

Tavtigian Sean V, Harrison Steven M, Boucher Kenneth M, Biesecker Leslie G

Abstract excerpt

Recently, we demonstrated that the qualitative American College of Medical Genetics and Genomics/Association for Medical Pathology (ACMG/AMP) guidelines for evaluation of Mendelian disease gene variants are fundamentally compatible with a quantitative Bayesian formulation. Here, we show that the underlying ACMG/AMP "strength of evidence categories" can be abstracted into a point system. These points are...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bayes Theorem
Share to Genetic Associations and Epidemiology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic factors in colorectal cancer

Share to Genetic Testing

Share to Genetic Variation

Share to Genome, Human

Share to Genomics and Rare Diseases

Share to United States

Source

Open in PubMed Open full text

Identifiers

PMID: 32720330
DOI: 10.1002/humu.24088
PMCID: PMC8011844

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines.PMID 32720330Read ↗

Evaluation of Bayesian Point-Based System on the Variant Classification of Hereditary Cancer Predisposition GenesSemantic proximity Read ↗

Evaluation of Bayesian point-based system on the variant classification of hereditary cancer predisposition genes.Semantic proximity Read ↗

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.Semantic proximity Read ↗

The PS4-Likelihood Ratio Calculator: Flexible allocation of evidence weighting for case-control data in variant classificationSemantic proximity Read ↗

ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.Semantic proximity Read ↗

Beyond thresholds: a fully Bayesian framework for quantifying allele count evidence for variant pathogenicitySemantic proximity Read ↗

The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.Semantic proximity Read ↗

Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantifySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.