Authors
William McLaren, Bethan Pritchard, Daniel Rios, Yuan Chen, Paul Flicek, Fiona Cunningham
Publication date
2010/8/15
Journal
Bioinformatics
Volume
26
Issue
16
Pages
2069-2070
Publisher
Oxford University Press
Description
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: [email protected]; [email protected]
Supplementary information: Supplementary data are available at Bioinformatics online.
Total citations
Scholar articles
W McLaren, B Pritchard, D Rios, Y Chen, P Flicek… - Bioinformatics, 2010