Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor.
Where this comes from
- Record sourced from PubMed, PMID 20562413.
- Also identified by DOI 10.1093/bioinformatics/btq330 and PMC identifier 2916720.
- Licence recorded as CC BY-NC.
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Abstract
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. 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.
Medical subject headings
- Genetic Variation
- Genomics
- Polymorphism, Single Nucleotide
- Software