Article

Automating ACMG Variant Classifications With BIAS-2015 v2.0.0: Algorithm Analysis and Benchmark Against the FDA-Approved eRepo Dataset

2025-02-26

Abstract excerpt

<h4>Background: </h4> In 2015, the American College of Medical Genetics and Genomics (ACMG), in collaboration with the Association of Molecular Pathologists (AMP), published guidelines for interpreting and classifying germline genomic variants. These guidelines defined five categories: benign, likely benign, uncertain significance, likely pathogenic, and pathogenic, with 28 criteria but no specific implementation...

Topics

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

Identifiers and source

Literature Corpus work: e0f1ea9b-b56e-5f58-afdc-17b1e38c6ac9
DOI: 10.1101/2025.02.23.25322737

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Automating ACMG Variant Classifications With BIAS-2015 v2.0.0: Algorithm Analysis and Benchmark Against the FDA-Approved eRepo DatasetDOI 10.1101/2025.02.23.25322737Read

Automating ACMG variant classifications with BIAS-2015 v2.1.1: algorithm analysis and benchmark against the FDA-approved eRepo dataset.Semantic proximity Read

Automating ACMG Variant Classifications Using BIAS-2015: An Algorithm Overview and Benchmark Against the FDA-Approved eRepo DatasetSemantic proximity Read

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert PanelSemantic proximity Read

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.Semantic proximity Read

Comprehensive evaluation of ACMG/AMP-based variant classification tools.Semantic proximity Read

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

Concordance of Automated ACMG Variant Classification with Expert-Curated Assertions: A Systematic Evaluation Using the ClinGen Evidence RepositorySemantic proximity Read

Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment.Semantic proximity Read

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

Study of the impact of ClinGen Revisions on ACMG/AMP variant semi-automatic classification for Rare Diseases diagnosis.Semantic proximity Read

ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP GuidelinesSemantic proximity Read

ClinVar: updates to support classifications of both germline and somatic variants.Semantic proximity Read