Abstract

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

EnsemblWorld Wide WebComputer scienceSoftwareComputational biologyBioinformaticsGenomeGenomicsBiologyGeneticsOperating systemGene

MeSH Terms

Genetic VariationGenomicsInternetPolymorphismSingle NucleotideSoftware

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Publication Info

Year
2010
Type
article
Volume
26
Issue
16
Pages
2069-2070
Citations
1650
Access
Closed

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Cite This

William McLaren, Bethan Pritchard, Daniel Ríos et al. (2010). Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics , 26 (16) , 2069-2070. https://doi.org/10.1093/bioinformatics/btq330

Identifiers

DOI
10.1093/bioinformatics/btq330
PMID
20562413
PMCID
PMC2916720

Data Quality

Data completeness: 86%