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Bioinformatics. 2010 Aug 15;26(16):2069-70. doi: 10.1093/bioinformatics/btq330. Epub 2010 Jun 18.

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

Author information

1
European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. wm2@ebi.ac.uk

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.

PMID:
20562413
PMCID:
PMC2916720
DOI:
10.1093/bioinformatics/btq330
[Indexed for MEDLINE]
Free PMC Article

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