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

页码：2069 / 2070

页数：2

共 47 条

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[38] Multi-breed genomic prediction using Bayes R with sequence data and dropping variants with a small effect
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[39] The accuracy of genomic prediction for meat quality traits in Hanwoo cattle when using genotypes from different SNP densities and preselected variants from imputed whole genome sequence
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[40] THE EFFECT OF SNP VARIANTS IN THE 3'-UTR REGION OF IL-5 ON GENE TRANSCRIPTION AND MRNA STABILITY AND THEIR ROLE IN SYMPTOMATIC INFECTION WITH SCHISTOSOMA JAPONICUM
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