Article

AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification

2023-12-01

Abstract excerpt

<h4>Summary</h4> With the increasing rates of exome and whole genome sequencing, the ability to classify large sets of germline sequencing variants using up-to-date American College of Medical Genetics – Association for Molecular Pathology (ACMG-AMP) criteria is crucial. Here, we present Automated Germline Variant Pathogenicity (AutoGVP), a tool that integrates germline variant pathogenicity annotations from Clin...

Topics

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

Identifiers and source

Literature Corpus work: a6afe330-41e6-5ce3-b7ec-f481aabe198f
DOI: 10.1101/2023.11.29.569103

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classificationDOI 10.1101/2023.11.29.569103Read

AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.Semantic proximity Read

Informing Variant Assessment using Structured Evidence from Prior Classifications (PS1, PM5, and PVS1 Sequence Variant Interpretation Criteria)Semantic proximity Read

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

MOLGENIS VIP: an open-source and modular pipeline for high-throughput and integrated DNA variant analysisSemantic proximity Read

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS RecommendationsSemantic proximity Read

Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria).Semantic proximity Read

Towards automation of germline variant curation in clinical cancer geneticsSemantic proximity Read

CharGer: clinical Characterization of Germline variantsSemantic proximity Read

Toward Automatic Variant Interpretation: Discordant Genetic Interpretation Across Variant Annotations for ClinVar Pathogenic VariantsSemantic proximity Read

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.Semantic proximity Read

SNPred outperforms other ensemble-based SNV pathogenicity predictors and elucidates the challenges of using ClinVar for evaluation of variant classification qualitySemantic proximity Read

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