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Article: wKGGSeq: A Comprehensive Strategy-Based and Disease-Targeted Online Framework to Facilitate Exome Sequencing Studies of Inherited Disorders

TitlewKGGSeq: A Comprehensive Strategy-Based and Disease-Targeted Online Framework to Facilitate Exome Sequencing Studies of Inherited Disorders
Authors
Issue Date2015
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Citation
Human Mutation, 2015, v. 36 n. 5, p. 496-503 How to Cite?
AbstractWith the rapid advances in high-throughput sequencing technologies, exome sequencing and targeted region sequencing have become routine approaches for identifying mutations of inherited disorders in both genetics research and molecular diagnosis. There is an imminent need for comprehensive and easy-to-use downstream analysis tools to isolate causal mutations in exome sequencing studies. We have developed a user-friendly online framework, wKGGSeq, to provide systematic annotation, filtration, prioritization, and visualization functions for characterizing causal mutation(s) in exome sequencing studies of inherited disorders. wKGGSeq provides: (1) a novel strategy-based procedure for downstream analysis of a large amount of exome sequencing data and (2) a disease-targeted analysis procedure to facilitate clinical diagnosis of well-studied genetic diseases. In addition, it is also equipped with abundant online annotation functions for sequence variants. We demonstrate that wKGGSeq either outperforms or is comparable to two popular tools in several real exome sequencing samples. This tool will greatly facilitate the downstream analysis of exome sequencing data and can play a useful role for researchers and clinicians in identifying causal mutations of inherited disorders. The wKGGSeq is freely available at http://statgenpro.psychiatry.hku.hk/wkggseq or http://jjwanglab.org/wkggseq, and will be updated frequently. © 2015 WILEY PERIODICALS, INC.
Persistent Identifierhttp://hdl.handle.net/10722/211617
ISSN
2015 Impact Factor: 5.089
2015 SCImago Journal Rankings: 3.670
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLi, MJ-
dc.contributor.authorDeng, SJ-
dc.contributor.authorWang, P-
dc.contributor.authorYang, W-
dc.contributor.authorHo, SL-
dc.contributor.authorSham, PC-
dc.contributor.authorWang, JJ-
dc.contributor.authorLi, M-
dc.date.accessioned2015-07-21T02:04:59Z-
dc.date.available2015-07-21T02:04:59Z-
dc.date.issued2015-
dc.identifier.citationHuman Mutation, 2015, v. 36 n. 5, p. 496-503-
dc.identifier.issn1059-7794-
dc.identifier.urihttp://hdl.handle.net/10722/211617-
dc.description.abstractWith the rapid advances in high-throughput sequencing technologies, exome sequencing and targeted region sequencing have become routine approaches for identifying mutations of inherited disorders in both genetics research and molecular diagnosis. There is an imminent need for comprehensive and easy-to-use downstream analysis tools to isolate causal mutations in exome sequencing studies. We have developed a user-friendly online framework, wKGGSeq, to provide systematic annotation, filtration, prioritization, and visualization functions for characterizing causal mutation(s) in exome sequencing studies of inherited disorders. wKGGSeq provides: (1) a novel strategy-based procedure for downstream analysis of a large amount of exome sequencing data and (2) a disease-targeted analysis procedure to facilitate clinical diagnosis of well-studied genetic diseases. In addition, it is also equipped with abundant online annotation functions for sequence variants. We demonstrate that wKGGSeq either outperforms or is comparable to two popular tools in several real exome sequencing samples. This tool will greatly facilitate the downstream analysis of exome sequencing data and can play a useful role for researchers and clinicians in identifying causal mutations of inherited disorders. The wKGGSeq is freely available at http://statgenpro.psychiatry.hku.hk/wkggseq or http://jjwanglab.org/wkggseq, and will be updated frequently. © 2015 WILEY PERIODICALS, INC.-
dc.languageeng-
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515-
dc.relation.ispartofHuman Mutation-
dc.rightsHuman Mutation. Copyright © John Wiley & Sons, Inc.-
dc.rightsSpecial Statement for Preprint only Before publication: 'This is a preprint of an article accepted for publication in [The Journal of Pathology] Copyright © ([year]) ([Pathological Society of Great Britain and Ireland])'. After publication: the preprint notice should be amended to follows: 'This is a preprint of an article published in [include the complete citation information for the final version of the Contribution as published in the print edition of the Journal]' For Cochrane Library/ Cochrane Database of Systematic Reviews, add statement & acknowledgement : ‘This review is published as a Cochrane Review in the Cochrane Database of Systematic Reviews 20XX, Issue X. Cochrane Reviews are regularly updated as new evidence emerges and in response to comments and criticisms, and the Cochrane Database of Systematic Reviews should be consulted for the most recent version of the Review.’ Please include reference to the Review and hyperlink to the original version using the following format e.g. Authors. Title of Review. Cochrane Database of Systematic Reviews 20XX, Issue #. Art. No.: CD00XXXX. DOI: 10.1002/14651858.CD00XXXX (insert persistent link to the article by using the URL: http://dx.doi.org/10.1002/14651858.CD00XXXX) (This statement should refer to the most recent issue of the Cochrane Database of Systematic Reviews in which the Review published.)-
dc.titlewKGGSeq: A Comprehensive Strategy-Based and Disease-Targeted Online Framework to Facilitate Exome Sequencing Studies of Inherited Disorders-
dc.typeArticle-
dc.identifier.emailDeng, SJ: silviakt@hku.hk-
dc.identifier.emailYang, W: yangwl@hkucc.hku.hk-
dc.identifier.emailHo, SL: slho@hku.hk-
dc.identifier.emailSham, PC: pcsham@hku.hk-
dc.identifier.emailWang, JJ: junwen@hku.hk-
dc.identifier.emailLi, M: mxli@hku.hk-
dc.identifier.authorityYang, W=rp00524-
dc.identifier.authorityHo, SL=rp00240-
dc.identifier.authoritySham, PC=rp00459-
dc.identifier.authorityWang, JJ=rp00280-
dc.identifier.authorityLi, M=rp01722-
dc.identifier.doi10.1002/humu.22766-
dc.identifier.pmid25676918-
dc.identifier.scopuseid_2-s2.0-84928204559-
dc.identifier.hkuros244447-
dc.identifier.volume36-
dc.identifier.issue5-
dc.identifier.spage496-
dc.identifier.epage503-
dc.identifier.isiWOS:000353357300002-
dc.publisher.placeUnited States-

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