Your browser doesn't support javascript.
loading
Annotating high-impact 5'untranslated region variants with the UTRannotator.
Zhang, Xiaolei; Wakeling, Matthew; Ware, James; Whiffin, Nicola.
Afiliação
  • Zhang X; National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London, London W12 0NN, UK.
  • Wakeling M; Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London SW3 6NP, UK.
  • Ware J; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX1 2LU, UK.
  • Whiffin N; National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London, London W12 0NN, UK.
Bioinformatics ; 37(8): 1171-1173, 2021 05 23.
Article em En | MEDLINE | ID: mdl-32926138
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. 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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Software / Regiões 5' não Traduzidas Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Software / Regiões 5' não Traduzidas Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article