Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
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DOI：
10.1093/bioinformatics/btq330
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发表时间：
2010-08-15
期刊：
影响因子：
5.8
通讯作者：
Cunningham, Fiona
中科院分区：
文献类型：
--
作者：
McLaren, William;Pritchard, Bethan;Cunningham, Fiona
预测新发现的基因组变异对已知转录本的影响的工具在对这些变异进行优先排序和分类时是不可或缺的。在Ensembl中，基于网络的工具（SNP效应预测器）和API界面现在可以功能性地注释所有Ensembl和Ensembl Genomes支持的物种中的变体。
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.