Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

Clicks: 1
ID: 291813
2010
Free PDF
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This article has not been analysed, so there is no overall score — reader engagement is measured and shown alongside.
AI Quality Assessment
Not analyzed
Readership in this journal

Ranked #733 of 829 articles by views in BMC Bioinformatics

Most read Least read

Bar heights use a square-root scale. Only the 120 most-read articles are drawn; the journal has 829 in total.

Mint this article as an NFT
Not yet minted

Create a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.

5 SUSD one-off · no wallet required
Sign in to mint
Abstract
Abstract Summary: A tool to predict the effect that newly discovered genomic variants have on known transcripts is indispensible in prioritizing and categorizing such variants. In Ensembl, a web-based tool (the SNP Effect Predictor) and API interface can now functionally annotate variants in all Ensembl and Ensembl Genomes supported species. Availability: The Ensembl SNP Effect Predictor can be accessed via the Ensembl website at http://www.ensembl.org/. The Ensembl API (http://www.ensembl.org/info/docs/api/api_installation.html for installation instructions) is open source software. Contact: wm2@ebi.ac.uk; fiona@ebi.ac.uk Supplementary information: Supplementary data are available at Bioinformatics online.
Reference Key
openalex_W2104570606 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors William McLaren, Bethan Pritchard, Daniel Ríos, Yuan Chen, Paul Flicek, Fiona Cunningham
Journal BMC Bioinformatics
Year 2010
DOI
10.1093/bioinformatics/btq330
URL
https://academic.oup.com/bioinformatics/article-pdf/26/16/2069/16894818/btq330.pdf
Keywords Keywords not found

Citations

No citations found. To add a citation, contact the admin at info@scimatic.org

Comments

No comments yet. Be the first to comment on this article.