Article

Annotating high-impact 5’untranslated region variants with the UTRannotator

2020-06-04

Abstract excerpt

<h4>Summary</h4> Current tools to annotate the predicted effect of genetic variants are heavily biased towards protein-coding sequence. Variants outside of these regions may have a large impact on protein expression and/or structure and can lead to disease, but this effect can be challenging to predict. Consequently, these variants are poorly annotated using standard tools. We have developed a plugin to the Ensem...

Topics

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

Identifiers and source

Literature Corpus work: 18b4932a-394b-5763-befc-8a3ca484c33f
DOI: 10.1101/2020.06.03.132266

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Annotating high-impact 5’untranslated region variants with the UTRannotatorDOI 10.1101/2020.06.03.132266Read

utR.annotation: a tool for annotating genomic variants that could influence post-transcriptional regulationSemantic proximity Read

Enhancing the annotation of small ORF-altering variants using MORFEE: introducing MORFEEdb, a comprehensive catalog of SNVs affecting upstream ORFs in human 5’UTRsSemantic proximity Read

The role of untranslated region variants in Mendelian disease: a review.Semantic proximity Read

Predicting functional UTR variants by integrating region-specific features.Semantic proximity Read

Regulatory features aid interpretation of 3’UTR VariantsSemantic proximity Read

Genome-wide detection of human 5' UTR variants that impact protein translation.Semantic proximity Read

A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect predictionSemantic proximity Read

MORFEE: a new tool for detecting and annotating single nucleotide variants creating premature ATG codons from VCF filesSemantic proximity Read

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare diseaseSemantic proximity Read

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.Semantic proximity Read

ncVarDB: a manually curated database for pathogenic non-coding variants and benign controls.Semantic proximity Read

Functional annotation of noncoding sequence variants.Semantic proximity Read