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

  • Authors:

  • William McLaren;Bethan Pritchard;Daniel Rios;Yuan Chen;Paul Flicek;Fiona Cunningham

  • Affiliations:

  • -;-;-;-;-;-

  • Venue:
  • Bioinformatics
  • Year:
  • 2010

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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.