Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
Top Cited Papers
Open Access
- 18 June 2010
- journal article
- research article
- Published by Oxford University Press (OUP) in Bioinformatics
- Vol. 26 (16) , 2069-2070
- https://doi.org/10.1093/bioinformatics/btq330
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.Keywords
This publication has 8 references indexed in Scilit:
- Predicting the network of substrate-enzyme-product triads by combining compound similarity and functional domain compositionBMC Bioinformatics, 2010
- A database and API for variation, dense genotyping and resequencing dataBMC Bioinformatics, 2010
- Novel insights into the genomic basis of citrus canker based on the genome sequences of two strains of Xanthomonas fuscans subsp. aurantifoliiBMC Genomics, 2010
- Ensembl's 10th yearNucleic Acids Research, 2009
- Next generation tools for the annotation of human SNPsBriefings in Bioinformatics, 2009
- dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation.1999
- dbSNP—Database for Single Nucleotide Polymorphisms and Other Classes of Minor Genetic VariationGenome Research, 1999