Back to search

Article

HECTOR: A Web-Based Tool for Automated <i>BRCA1/BRCA2</i> Variant Classification Under the ClinGen ENIGMA Specifications

2026-07-10

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> The ClinGen ENIGMA BRCA1 / BRCA2 Variant Curation Expert Panel (VCEP) has adapted the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) framework into gene-specific specifications. However, applying these specifications manually remains labor-intensive and prone to inconsistency, requiring integration of population, computatio...

Topics

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

Identifiers and source

Literature Corpus work
934ce160-50db-5b0d-ad8b-14f172bf7e86
DOI
10.64898/2026.07.06.26357220
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
HECTOR: A Web-Based Tool for Automated <i>BRCA1/BRCA2</i> Variant Classification Under the ClinGen ENIGMA SpecificationsDOI 10.64898/2026.07.06.26357220
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert PanelSemantic proximity
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.Semantic proximity
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline<i>ATM</i>sequence variantsSemantic proximity
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2.Semantic proximity
Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions.Semantic proximity
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Semantic proximity
Automating ACMG Variant Classifications With BIAS-2015 v2.0.0: Algorithm Analysis and Benchmark Against the FDA-Approved eRepo DatasetSemantic proximity
The impact of systematized generation, evaluation, and incorporation of machine learning algorithms for clinical variant classificationSemantic proximity
Evaluation of <i>in silico</i> algorithms for use with ACMG/AMP clinical variant interpretation guidelinesSemantic proximity
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.Semantic proximity
BRCAIndica: a Resource for ACMG/AMP classified BRCA1 and BRCA2 VariantsSemantic proximity
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) DiseaseSemantic proximity
Select a neighboring publication to make it the new centre.