Article

A variant by any name: quantifying annotation discordance across tools and clinical databases

2016-05-18

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Clinical genomic testing is dependent on the robust identification and reporting of variant-level information in relation to disease. With the shift to high-throughput sequencing, a major challenge for clinical diagnostics is the cross-identification of variants called on their genomic position to resources that rely on transcript- or protein-based descriptions. <h4>Methods<...

Topics

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

Identifiers and source

Literature Corpus work: 143de8ff-c6ce-560b-a808-f95a17b8c890
DOI: 10.1101/054023

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A variant by any name: quantifying annotation discordance across tools and clinical databasesDOI 10.1101/054023Read

A variant by any name: quantifying annotation discordance across tools and clinical databases.Semantic proximity Read

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

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

VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.Semantic proximity Read

Variations in Nomenclature of Clinical Variants between Annotation Tools.Semantic proximity Read

Mutalyzer 2: Next Generation HGVS Nomenclature CheckerSemantic proximity Read

Mutalyzer 2: next generation HGVS nomenclature checker.Semantic proximity Read

LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVarSemantic proximity Read

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

LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVar.Semantic proximity Read

Clinical Annotation Reference Templates: a resource for consistent variant annotationSemantic proximity Read

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.Semantic proximity Read