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dc.contributor.authorAlarcon, Flora
dc.contributor.authorBonaïti-Pellié, Catherine
dc.contributor.authorHarari-Kermadec, Hugo
dc.date.accessioned2009-07-03T10:28:08Z
dc.date.available2009-07-03T10:28:08Z
dc.date.issued2007
dc.identifier.urihttps://basepub.dauphine.fr/handle/123456789/726
dc.language.isoenen
dc.subjectRisk estimationen
dc.subjectascertainment biasen
dc.subjectnon parametric methoden
dc.subject.ddc610en
dc.titleA nonparametric method for penetrance function estimation.en
dc.typeArticle accepté pour publication ou publié
dc.contributor.editoruniversityotherINSEE – École Nationale de la Statistique et de l'Administration Économique;France
dc.contributor.editoruniversityotherUniversité Paris Sud - Paris XI;France
dc.description.abstractenIn diseases caused by a deleterious gene mutation, knowledge of age-specific cumulative risks is necessary for medical management of mutation carriers. When pedigrees are ascertained through at least one affected individual, ascertainment bias can be corrected by using a parametric method such as the Proband's phenotype Exclusion Likelihood, or PEL, that uses a survival analysis approach based on the Weibull model. This paper proposes a non parametric method for penetrance function estimation that corrects for ascertainment on at least one affected: the Index Discarding EuclideAn Likelihood or IDEAL. IDEAL is compared with PEL, using family samples simulated from a Weibull distribution and under alternative models. We show that, under Weibull assumption and asymptotic conditions, IDEAL and PEL both provide unbiased risk estimates. However, when the true risk function deviates from a Weibull distribution, we show that the PEL might provide biased estimates while IDEAL remains unbiased.en
dc.relation.isversionofjnlnameGenetic Epidemiology
dc.relation.isversionofjnlvol33en
dc.relation.isversionofjnlissue1en
dc.relation.isversionofjnldate2008
dc.relation.isversionofjnlpages38-44en
dc.relation.isversionofdoihttp://dx.doi.org/10.1002/gepi.20354en
dc.description.sponsorshipprivateouien
dc.relation.isversionofjnlpublisherJohn Wiley & Sonsen
dc.subject.ddclabelMédecine et santéen


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