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Article: HaploShare: identification of extended haplotypes shared by cases and evaluation against controls

TitleHaploShare: identification of extended haplotypes shared by cases and evaluation against controls
Authors
Issue Date2015
PublisherBioMed Central Ltd. The Journal's web site is located at http://www.genomebiology.com
Citation
Genome Biology (Online Edition), 2015, v. 16, article no. 92 How to Cite?
AbstractRecent founder mutations may play important roles in complex diseases and Mendelian disorders. Detecting shared haplotypes that are identical by descent (IBD) could facilitate discovery of these mutations. Several programs address this, but are usually limited to detecting pair-wise shared haplotypes and not providing a comparison of cases and controls. We present a novel algorithm and software package, HaploShare, which detects extended haplotypes that are shared by multiple individuals, and allows comparisons between cases and controls. Testing on simulated and real cases demonstrated significant improvements in detection power and reduction of false positive rate by HaploShare relative to other programs.
Persistent Identifierhttp://hdl.handle.net/10722/211876
ISSN
2009 Impact Factor: 6.626
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorYing, D-
dc.contributor.authorSham, PC-
dc.contributor.authorSmith, DK-
dc.contributor.authorZhang, L-
dc.contributor.authorLau, YL-
dc.contributor.authorYang, W-
dc.date.accessioned2015-07-21T02:14:33Z-
dc.date.available2015-07-21T02:14:33Z-
dc.date.issued2015-
dc.identifier.citationGenome Biology (Online Edition), 2015, v. 16, article no. 92-
dc.identifier.issn1474-760X-
dc.identifier.urihttp://hdl.handle.net/10722/211876-
dc.description.abstractRecent founder mutations may play important roles in complex diseases and Mendelian disorders. Detecting shared haplotypes that are identical by descent (IBD) could facilitate discovery of these mutations. Several programs address this, but are usually limited to detecting pair-wise shared haplotypes and not providing a comparison of cases and controls. We present a novel algorithm and software package, HaploShare, which detects extended haplotypes that are shared by multiple individuals, and allows comparisons between cases and controls. Testing on simulated and real cases demonstrated significant improvements in detection power and reduction of false positive rate by HaploShare relative to other programs.-
dc.languageeng-
dc.publisherBioMed Central Ltd. The Journal's web site is located at http://www.genomebiology.com-
dc.relation.ispartofGenome Biology (Online Edition)-
dc.rightsGenome Biology (Online Edition). Copyright © BioMed Central Ltd.-
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleHaploShare: identification of extended haplotypes shared by cases and evaluation against controls-
dc.typeArticle-
dc.identifier.emailYing, D: jonson@hku.hk-
dc.identifier.emailSham, PC: pcsham@hku.hk-
dc.identifier.emailLau, YL: lauylung@hku.hk-
dc.identifier.emailYang, W: yangwl@hkucc.hku.hk-
dc.identifier.authoritySham, PC=rp00459-
dc.identifier.authorityLau, YL=rp00361-
dc.identifier.authorityYang, W=rp00524-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1186/s13059-015-0662-9-
dc.identifier.pmid25956955-
dc.identifier.pmcidPMC4432975-
dc.identifier.scopuseid_2-s2.0-84939129135-
dc.identifier.hkuros244465-
dc.identifier.volume16-
dc.identifier.isiWOS:000354516700001-
dc.publisher.placeUnited Kingdom-

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