European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
Bioinformatics. 2010 Aug 15;26(16):2069-70. doi: 10.1093/bioinformatics/btq330. Epub 2010 Jun 18.
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.
预测新发现的基因组变异对已知转录本的影响的工具对于优先排序和分类此类变异是必不可少的。在 Ensembl 中,一个基于网络的工具(SNP 效应预测器)和 API 接口现在可以对所有支持 Ensembl 和 Ensembl 基因组的物种中的变异进行功能注释。
可以通过 Ensembl 网站(http://www.ensembl.org/)访问 Ensembl SNP 效应预测器。Ensembl API(有关安装说明,请访问 http://www.ensembl.org/info/docs/api/api_installation.html)是开源软件。