Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
W McLaren, B Pritchard, D Rios, Y Chen, P Flicek… - …, 2010 - academic.oup.com
W McLaren, B Pritchard, D Rios, Y Chen, P Flicek, F Cunningham
Bioinformatics, 2010•academic.oup.comA 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 …
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 …
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.
Oxford University Press