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Article: A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

TitleA comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases
Authors
Issue Date2012
PublisherOxford University Press. The Journal's web site is located at http://nar.oxfordjournals.org/
Citation
Nucleic Acids Research, 2012, v. 40 n. 7, p. e53 How to Cite?
AbstractExome sequencing strategy is promising for finding novel mutations of human monogenic disorders. However, pinpointing the casual mutation in a small number of samples is still a big challenge. Here, we propose a three-level filtration and prioritization framework to identify the casual mutation(s) in exome sequencing studies. This efficient and comprehensive framework successfully narrowed down whole exome variants to very small numbers of candidate variants in the proof-of-concept examples. The proposed framework, implemented in a user-friendly software package, named KGGSeq (http://statgenpro.psychiatry.hku. hk/kggseq), will play a very useful role in exome sequencing-based discovery of human Mendelian disease genes. © 2011 The Author(s).
Persistent Identifierhttp://hdl.handle.net/10722/152628
ISSN
2015 Impact Factor: 9.202
2015 SCImago Journal Rankings: 7.458
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLi, MXen_HK
dc.contributor.authorGui, HSen_HK
dc.contributor.authorKwan, JSHen_HK
dc.contributor.authorBao, SYen_HK
dc.contributor.authorSham, PCen_HK
dc.date.accessioned2012-07-16T09:44:30Z-
dc.date.available2012-07-16T09:44:30Z-
dc.date.issued2012en_HK
dc.identifier.citationNucleic Acids Research, 2012, v. 40 n. 7, p. e53en_HK
dc.identifier.issn0305-1048en_HK
dc.identifier.urihttp://hdl.handle.net/10722/152628-
dc.description.abstractExome sequencing strategy is promising for finding novel mutations of human monogenic disorders. However, pinpointing the casual mutation in a small number of samples is still a big challenge. Here, we propose a three-level filtration and prioritization framework to identify the casual mutation(s) in exome sequencing studies. This efficient and comprehensive framework successfully narrowed down whole exome variants to very small numbers of candidate variants in the proof-of-concept examples. The proposed framework, implemented in a user-friendly software package, named KGGSeq (http://statgenpro.psychiatry.hku. hk/kggseq), will play a very useful role in exome sequencing-based discovery of human Mendelian disease genes. © 2011 The Author(s).en_HK
dc.languageengen_US
dc.publisherOxford University Press. The Journal's web site is located at http://nar.oxfordjournals.org/en_HK
dc.relation.ispartofNucleic Acids Researchen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subject.meshExome-
dc.subject.meshGenetic Diseases, Inborn - genetics-
dc.subject.meshMutation-
dc.subject.meshProtein Interaction Maps-
dc.subject.meshSequence Analysis, DNA-
dc.titleA comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseasesen_HK
dc.typeArticleen_HK
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1093/nar/gkr1257en_HK
dc.identifier.pmid22241780-
dc.identifier.pmcidPMC3326332-
dc.identifier.scopuseid_2-s2.0-84860147579en_HK
dc.identifier.hkuros200611en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84860147579&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume40en_HK
dc.identifier.issue7en_HK
dc.identifier.spagee53en_HK
dc.identifier.epagee53en_HK
dc.identifier.eissn1362-4962-
dc.identifier.isiWOS:000303164400007-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridLi, MX=35205389900en_HK
dc.identifier.scopusauthoridGui, HS=16645619300en_HK
dc.identifier.scopusauthoridKwan, JSH=37063349600en_HK
dc.identifier.scopusauthoridBao, SY=55196159000en_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.citeulike10229048-

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