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

被引：1250

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 5 条

[1] Ensembl variation resources
Chen, Yuan
Cunningham, Fiona
Rios, Daniel
McLaren, William M.
Smith, James
Pritchard, Bethan
Spudich, Giulietta M.
Brent, Simon
Kulesha, Eugene
Marin-Garcia, Pablo
Smedley, Damian
Birney, Ewan
Flicek, Paul
[J]. BMC GENOMICS, 2010, 11
[2] Ensembl's 10th year
Flicek, Paul
Aken, Bronwen L.
Ballester, Benoit
Beal, Kathryn
Bragin, Eugene
Brent, Simon
Chen, Yuan
Clapham, Peter
Coates, Guy
Fairley, Susan
Fitzgerald, Stephen
Fernandez-Banet, Julio
Gordon, Leo
Graef, Stefan
Haider, Syed
Hammond, Martin
Howe, Kerstin
Jenkinson, Andrew
Johnson, Nathan
Kaehaeri, Andreas
Keefe, Damian
Keenan, Stephen
Kinsella, Rhoda
Kokocinski, Felix
Koscielny, Gautier
Kulesha, Eugene
Lawson, Daniel
Longden, Ian
Massingham, Tim
McLaren, William
Megy, Karine
Overduin, Bert
Pritchard, Bethan
Rios, Daniel
Ruffier, Magali
Schuster, Michael
Slater, Guy
Smedley, Damian
Spudich, Giulietta
Tang, Y. Amy
Trevanion, Stephen
Vilella, Albert
Vogel, Jan
White, Simon
Wilder, Steven P.
Zadissa, Amonida
Birney, Ewan
Cunningham, Fiona
Dunham, Ian
Durbin, Richard
[J]. NUCLEIC ACIDS RESEARCH, 2010, 38 : D557 - D562
[3] Next generation tools for the annotation of human SNPs
Karchin, Rachel
[J]. BRIEFINGS IN BIOINFORMATICS, 2009, 10 (01) : 35 - 52
[4] A database and API for variation, dense genotyping and resequencing data
Rios, Daniel
McLaren, William M.
Chen, Yuan
Birney, Ewan
Stabenau, Arne
Flicek, Paul
Cunningham, Fiona
[J]. BMC BIOINFORMATICS, 2010, 11
[5] Sherry ST, 1999, GENOME RES, V9, P677

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