A nonparametric method for penetrance function estimation.
Alarcon, Flora; Bonaïti-Pellié, Catherine; Harari-Kermadec, Hugo (2007), A nonparametric method for penetrance function estimation., Genetic Epidemiology, 33, 1, p. 38-44. http://dx.doi.org/10.1002/gepi.20354
TypeArticle accepté pour publication ou publié
Journal nameGenetic Epidemiology
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Abstract (EN)In 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.
Subjects / KeywordsRisk estimation; ascertainment bias; non parametric method
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Tuleau-Malot, Christine; Grammont, Franck; Rivoirard, Vincent; Reynaud-Bouret, Patricia (2014) Article accepté pour publication ou publié