Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor.
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
Genetic Variation | Genomics | Internet | Polymorphism, Single Nucleotide | Software