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

被引：1251
|
作者：
McLaren, William [1 ]
Pritchard, Bethan [2 ]
Rios, Daniel [1 ]
Chen, Yuan [1 ]
Flicek, Paul [1 ]
Cunningham, Fiona [1 ]
机构：
[1] European Bioinformat Inst, Cambridge CB10 1SD, England
[2] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England
来源：
BIOINFORMATICS | 2010年 / 26卷 / 16期
基金：
英国惠康基金;
关键词：
D O I：
10.1093/bioinformatics/btq330
中图分类号：
Q5 [生物化学];
学科分类号：
071010 ; 081704 ;
摘要：
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.
引用
收藏
页码：2069 / 2070
页数：2
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