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

http://www.ncbi.nlm.nih.gov/pubmed/20562413

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.

Pubmed ID: 20562413 RIS Download

Mesh terms: Genetic Variation | Genomics | Internet | Polymorphism, Single Nucleotide | Software

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