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

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.

SUBMITTER: McLaren W

PROVIDER: S-EPMC2916720 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature

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

McLaren William W Pritchard Bethan B Rios Daniel D Chen Yuan Y Flicek Paul P Cunningham Fiona F

Bioinformatics (Oxford, England) 20100618 16

<h4>Summary</h4>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.<h4>Availability</h4>The Ensembl SNP Effect Predictor can be accessed via the Ensembl website at http://www.ensembl.org/. The Ensembl API (http://www.ensembl.o ...[more]

PMID: 20562413

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