Imperial College London
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ProfessorJamesWare

Faculty of Medicine, National Heart & Lung Institute

Professor of Cardiovascular and Genomic Medicine
 
 
 
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Contact

 

j.ware Website

 
 
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Assistant

 

Ms Lisa Quinn +44 (0)20 7594 1345

 
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Location

 

3 13GLMS BuildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Zhang:2021:bioinformatics/btaa783,
author = {Zhang, X and Wakeling, M and Ware, J and Whiffin, N},
doi = {bioinformatics/btaa783},
journal = {Bioinformatics},
pages = {1171--1173},
title = {Annotating high-impact 5'untranslated region variants with the UTRannotator},
url = {http://dx.doi.org/10.1093/bioinformatics/btaa783},
volume = {37},
year = {2021}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - SUMMARY: 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 Ensembl Variant Effect Predictor, the UTRannotator, that annotates variants in 5'untranslated regions (5'UTR) that create or disrupt upstream open reading frames (uORFs). We investigate the utility of this tool using the ClinVar database, providing an annotation for 31.9% of all 5'UTR (likely) pathogenic variants, and highlighting 31 variants of uncertain significance as candidates for further follow-up. We will continue to update the UTRannotator as we gain new knowledge on the impact of variants in UTRs. AVAILABILITY AND IMPLEMENTATION: UTRannotator is freely available on Github: https://github.com/ImperialCardioGenetics/UTRannotator. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
AU  - Zhang,X
AU  - Wakeling,M
AU  - Ware,J
AU  - Whiffin,N
DO  - bioinformatics/btaa783
EP  - 1173
PY  - 2021///
SN  - 1367-4803
SP  - 1171
TI  - Annotating high-impact 5'untranslated region variants with the UTRannotator
T2  - Bioinformatics
UR  - http://dx.doi.org/10.1093/bioinformatics/btaa783
UR  - https://www.ncbi.nlm.nih.gov/pubmed/32926138
UR  - https://academic.oup.com/bioinformatics/article/37/8/1171/5905476
UR  - http://hdl.handle.net/10044/1/82771
VL  - 37
ER  -
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