VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era

被引：36

作者：

Cheng, Yu-Chang ^{[1
]}

Hsiao, Fang-Chih ^{[1
]}

Yeh, Erh-Chan ^{[1
]}

Lin, Wan-Jia ^{[1
]}

Tang, Cheng-Yang Louis ^{[1
]}

Tseng, Huan-Chin ^{[1
]}

Wu, Hsing-Tsung ^{[1
]}

Liu, Chuan-Kun ^{[1
]}

Chen, Chih-Cheng ^{[2
]}

Chen, Yuan-Tsong ^{[1
,2
]}

Yao, Adam ^{[1
,2
]}

机构：

[1] Acad Sinica, Natl Ctr Genome Med, Taipei 11529, Taiwan

[2] Acad Sinica, Inst Biomed Sci, Taipei 11529, Taiwan

来源：

NUCLEIC ACIDS RESEARCH | 2012年 / 40卷 / W1期

关键词：

DATABASE; SNPS; IDENTIFICATION; RESOURCE;

D O I：

10.1093/nar/gks397

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

VarioWatch (http://genepipe.ncgm.sinica.edu.tw/variowatch/) has been vastly improved since its former publication GenoWatch in the 2008 Web Server Issue. It is now at least 10 000-times faster in annotating a variant. Drastic speed increase, through complete re-design of its working mechanism, makes VarioWatch capable of annotating millions of human genomic variants generated from next generation sequencing in minutes, if not seconds. While using MegaQuery of VarioWatch to quickly annotate variants, users can apply various filters to retrieve a subgroup of variants according to the risk levels, interested regions, etc. that satisfy users' requirements. In addition to performance leap, many new features have also been added, such as annotation on novel variants, functional analyses on splice sites and in/dels, detailed variant information in tabulated form, plus a risk level decision tree regarding the analyzed variant. Up to 1000 target variants can be visualized with our carefully designed Genome View, Gene View, Transcript View and Variation View. Two commonly used reference versions, NCBI build 36.3 and NCBI build 37.2, are supported. VarioWatch is unique in its ability to annotate comprehensively and efficiently millions of variants online, immediately delivering the results in real time, plus visualizes up to 1000 annotated variants.

引用

页码：W76 / W81

页数：6

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