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

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...

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Autores principales: Cheng, Yu-Chang, Hsiao, Fang-Chih, Yeh, Erh-Chan, Lin, Wan-Jia, Tang, Cheng-Yang Louis, Tseng, Huan-Chin, Wu, Hsing-Tsung, Liu, Chuan-Kun, Chen, Chih-Cheng, Chen, Yuan-Tsong, Yao, Adam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3394242/
https://www.ncbi.nlm.nih.gov/pubmed/22618869
http://dx.doi.org/10.1093/nar/gks397
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author Cheng, Yu-Chang
Hsiao, Fang-Chih
Yeh, Erh-Chan
Lin, Wan-Jia
Tang, Cheng-Yang Louis
Tseng, Huan-Chin
Wu, Hsing-Tsung
Liu, Chuan-Kun
Chen, Chih-Cheng
Chen, Yuan-Tsong
Yao, Adam
author_facet Cheng, Yu-Chang
Hsiao, Fang-Chih
Yeh, Erh-Chan
Lin, Wan-Jia
Tang, Cheng-Yang Louis
Tseng, Huan-Chin
Wu, Hsing-Tsung
Liu, Chuan-Kun
Chen, Chih-Cheng
Chen, Yuan-Tsong
Yao, Adam
author_sort Cheng, Yu-Chang
collection PubMed
description 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.
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spelling pubmed-33942422012-07-30 VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era Cheng, Yu-Chang Hsiao, Fang-Chih Yeh, Erh-Chan Lin, Wan-Jia Tang, Cheng-Yang Louis Tseng, Huan-Chin Wu, Hsing-Tsung Liu, Chuan-Kun Chen, Chih-Cheng Chen, Yuan-Tsong Yao, Adam Nucleic Acids Res Articles 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. Oxford University Press 2012-07 2012-05-22 /pmc/articles/PMC3394242/ /pubmed/22618869 http://dx.doi.org/10.1093/nar/gks397 Text en © The Author(s) 2012. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Articles
Cheng, Yu-Chang
Hsiao, Fang-Chih
Yeh, Erh-Chan
Lin, Wan-Jia
Tang, Cheng-Yang Louis
Tseng, Huan-Chin
Wu, Hsing-Tsung
Liu, Chuan-Kun
Chen, Chih-Cheng
Chen, Yuan-Tsong
Yao, Adam
VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era
title VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era
title_full VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era
title_fullStr VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era
title_full_unstemmed VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era
title_short VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era
title_sort variowatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3394242/
https://www.ncbi.nlm.nih.gov/pubmed/22618869
http://dx.doi.org/10.1093/nar/gks397
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