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Article: Optimal weighting scheme for affected sib-pair analysis of sibship data

TitleOptimal weighting scheme for affected sib-pair analysis of sibship data
Authors
Issue Date1997
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/AHG
Citation
Annals Of Human Genetics, 1997, v. 61 n. 1, p. 61-69 How to Cite?
AbstractApplication of the affected sib-pair method of linkage analysis to sibships with variable numbers of affected and unaffected members requires a scheme for weighting the contributions from tile sibships in the calculation of an overall test statistic. Currently accepted weighting schemes are based on the concepts of independent pairs and Shannon information content. Here, we show that the weighting scheme with maximum power to detect linkage can be determined from the theoretical means and variances of the sibship contributions under the null and alternative hypotheses. We derive the theoretical means and variances of the contributions front different types of sibships under a generalized single locus model. We use these theoretical means and variances to obtain the optimal weights for a variety of single locus models, and compare the power of existing weighting schemes relative to the optimum. The results suggest that, under a range of plausible assumptions, optimal power is nearly obtained by weighting to all sibpairs equally, except those occuring in sibships with so many affected siblings (usually five or more) that the probability of parental homozygosity for the disease allele becomes substantial. A corollary is that, in affected sib-pair analysis, the 'informativeness' of a sibship is more nearly proportional to the number of affected sib-pairs than to the number of affected siblings, up to about five affected siblings.
Persistent Identifierhttp://hdl.handle.net/10722/175774
ISSN
2015 Impact Factor: 1.889
2015 SCImago Journal Rankings: 1.191
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorSham, PCen_US
dc.contributor.authorZhao, JHen_US
dc.contributor.authorCurtis, Den_US
dc.date.accessioned2012-11-26T09:01:12Z-
dc.date.available2012-11-26T09:01:12Z-
dc.date.issued1997en_US
dc.identifier.citationAnnals Of Human Genetics, 1997, v. 61 n. 1, p. 61-69en_US
dc.identifier.issn0003-4800en_US
dc.identifier.urihttp://hdl.handle.net/10722/175774-
dc.description.abstractApplication of the affected sib-pair method of linkage analysis to sibships with variable numbers of affected and unaffected members requires a scheme for weighting the contributions from tile sibships in the calculation of an overall test statistic. Currently accepted weighting schemes are based on the concepts of independent pairs and Shannon information content. Here, we show that the weighting scheme with maximum power to detect linkage can be determined from the theoretical means and variances of the sibship contributions under the null and alternative hypotheses. We derive the theoretical means and variances of the contributions front different types of sibships under a generalized single locus model. We use these theoretical means and variances to obtain the optimal weights for a variety of single locus models, and compare the power of existing weighting schemes relative to the optimum. The results suggest that, under a range of plausible assumptions, optimal power is nearly obtained by weighting to all sibpairs equally, except those occuring in sibships with so many affected siblings (usually five or more) that the probability of parental homozygosity for the disease allele becomes substantial. A corollary is that, in affected sib-pair analysis, the 'informativeness' of a sibship is more nearly proportional to the number of affected sib-pairs than to the number of affected siblings, up to about five affected siblings.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.meshAllelesen_US
dc.subject.meshGene Frequencyen_US
dc.subject.meshGenetic Diseases, Inborn - Geneticsen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshGenetic Markersen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHumansen_US
dc.subject.meshModels, Geneticen_US
dc.subject.meshModels, Statisticalen_US
dc.subject.meshNuclear Familyen_US
dc.subject.meshPedigreeen_US
dc.titleOptimal weighting scheme for affected sib-pair analysis of sibship dataen_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.pmid9066928-
dc.identifier.scopuseid_2-s2.0-0031047461en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0031047461&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume61en_US
dc.identifier.issue1en_US
dc.identifier.spage61en_US
dc.identifier.epage69en_US
dc.identifier.isiWOS:A1997WN13000006-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridSham, PC=34573429300en_US
dc.identifier.scopusauthoridZhao, JH=7410311266en_US
dc.identifier.scopusauthoridCurtis, D=14633020700en_US

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