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Article: A quick and simple method for detecting subjects with abnormal genetic background in case-control samples

TitleA quick and simple method for detecting subjects with abnormal genetic background in case-control samples
Authors
Issue Date2002
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/AHG
Citation
Annals Of Human Genetics, 2002, v. 66 n. 3, p. 235-244 How to Cite?
AbstractIt is important that case-control samples be drawn from a genetically homogeneous population in order to avoid artefactual false positive results and to enhance power to detect disease mutations and markers in linkage disequilibrium with them. Tests which simply compare overall marker allele frequencies between cases and controls will fail to identify a relatively small number of subjects drawn from a different genetic background who could usefully be discarded from the sample. Such subjects can be identified using multilocus tests, but previously described tests have been unnecessarily complex and cumbersome for this simple application. We describe a straightforward test, implemented in the CHECKHET program, which uses a measure of genetic difference and permutation procedures to rapidly identify such subjects using genotypes from multiple unlinked markers. It seems to perform reasonably well on simulated data, and with real data appears to identify two abnormal subjects within a case-control sample. We recommend that such tests be routinely applied to case-control samples once sufficient numbers of markers have been genotyped within them.
Persistent Identifierhttp://hdl.handle.net/10722/175863
ISSN
2015 Impact Factor: 1.889
2015 SCImago Journal Rankings: 1.191
References

 

DC FieldValueLanguage
dc.contributor.authorCurtis, Den_US
dc.contributor.authorNorth, BVen_US
dc.contributor.authorGurling, HMDen_US
dc.contributor.authorBlaveri, Een_US
dc.contributor.authorSham, PCen_US
dc.date.accessioned2012-11-26T09:01:53Z-
dc.date.available2012-11-26T09:01:53Z-
dc.date.issued2002en_US
dc.identifier.citationAnnals Of Human Genetics, 2002, v. 66 n. 3, p. 235-244en_US
dc.identifier.issn0003-4800en_US
dc.identifier.urihttp://hdl.handle.net/10722/175863-
dc.description.abstractIt is important that case-control samples be drawn from a genetically homogeneous population in order to avoid artefactual false positive results and to enhance power to detect disease mutations and markers in linkage disequilibrium with them. Tests which simply compare overall marker allele frequencies between cases and controls will fail to identify a relatively small number of subjects drawn from a different genetic background who could usefully be discarded from the sample. Such subjects can be identified using multilocus tests, but previously described tests have been unnecessarily complex and cumbersome for this simple application. We describe a straightforward test, implemented in the CHECKHET program, which uses a measure of genetic difference and permutation procedures to rapidly identify such subjects using genotypes from multiple unlinked markers. It seems to perform reasonably well on simulated data, and with real data appears to identify two abnormal subjects within a case-control sample. We recommend that such tests be routinely applied to case-control samples once sufficient numbers of markers have been genotyped within them.en_US
dc.languageengen_US
dc.publisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/AHGen_US
dc.relation.ispartofAnnals of Human Geneticsen_US
dc.subject.meshCase-Control Studiesen_US
dc.subject.meshGenetic Predisposition To Diseaseen_US
dc.subject.meshGenetic Variationen_US
dc.subject.meshHumansen_US
dc.subject.meshLikelihood Functionsen_US
dc.subject.meshResearch Designen_US
dc.subject.meshSampling Studiesen_US
dc.titleA quick and simple method for detecting subjects with abnormal genetic background in case-control samplesen_US
dc.typeArticleen_US
dc.identifier.emailSham, PC: pcsham@hku.hken_US
dc.identifier.authoritySham, PC=rp00459en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1017/S0003480002001094en_US
dc.identifier.pmid12174214-
dc.identifier.scopuseid_2-s2.0-0036562880en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0036562880&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume66en_US
dc.identifier.issue3en_US
dc.identifier.spage235en_US
dc.identifier.epage244en_US
dc.publisher.placeUnited Kingdomen_US
dc.identifier.f10001009457-
dc.identifier.scopusauthoridCurtis, D=14633020700en_US
dc.identifier.scopusauthoridNorth, BV=7005058731en_US
dc.identifier.scopusauthoridGurling, HMD=7005726887en_US
dc.identifier.scopusauthoridBlaveri, E=6507904490en_US
dc.identifier.scopusauthoridSham, PC=34573429300en_US

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