Article

PyVar: An Extensible Framework for Variant Annotator Comparison

2016-09-30

Abstract excerpt

Modern genomics projects are generating millions of variant calls that must be annotated for predicted functional consequences at the level of gene expression and protein function. Many of these variants are of interest owing to their potential clinical significance. Unfortunately, state-of-the-art methods do not always agree on downstream effects for any given variant. Here we present a readily extensible python...

Topics

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

Identifiers and source

Literature Corpus work: 9aa15df4-e013-5e96-ac7a-33aa6f24904c
DOI: 10.1101/078386

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

PyVar: An Extensible Framework for Variant Annotator ComparisonDOI 10.1101/078386Read

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

fastVEP: A High-Performance Variant Effect Predictor Implemented in RustSemantic proximity Read

CANVAR: A Tool for Clinical Annotation of Variants Using ClinVar Databases.Semantic proximity Read

A variant by any name: quantifying annotation discordance across tools and clinical databasesSemantic proximity Read

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

Variant calling in genomics: A comparative performance analysis and decision guide.Semantic proximity Read

The Ensembl Variant Effect PredictorSemantic proximity Read

Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.Semantic proximity Read

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

Annotation Query (AnnoQ): an integrated and interactive platform for large-scale genetic variant annotation.Semantic proximity Read

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

A Comprehensive Analysis of the Agreement and Performance of Variant Annotation Programs in Equine Genomes.Semantic proximity Read