Article

Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantify

2024-09-10

Abstract excerpt

<h4>Background</h4> Improving the precision and accuracy of variant classification in clinical genetic testing requires further specification and stratification of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria. While the Clinical Genome Resource (ClinGen) Bayesian framework enables quantitative evidence calibration for selected criteria, standardized...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f1bd2893-0051-5311-a506-56febc93fe62
DOI: 10.1101/2024.09.08.24313284

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantifyDOI 10.1101/2024.09.08.24313284Read

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaSemantic proximity Read

Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteriaSemantic proximity Read

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.Semantic proximity Read

The Impact of Clinical and Molecular Variant Properties on Calibration and Performance of Variant Effect Prediction ToolsSemantic proximity Read

Evaluating the impact of <i>in silico</i> predictors on clinical variant classificationSemantic proximity Read

Evaluating the impact of in silico predictors on clinical variant classification.Semantic proximity Read

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

Evaluation of <i>in silico</i> algorithms for use with ACMG/AMP clinical variant interpretation guidelinesSemantic proximity Read

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

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSemantic proximity Read

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.Semantic proximity Read

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.Semantic proximity Read