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Non-parametric estimation of survival in age-dependent genetic disease and application to the transthyretin-related hereditary amyloidosis
Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Medicin. Norrlands university hospital, NUS M31, Umeå, Sweden.
2018 (engelsk)Inngår i: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 13, nr 9, artikkel-id e0203860Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

In genetic diseases with variable age of onset, survival function estimation for the mutation carriers as well as estimation of the modifying factors effects are essential to provide individual risk assessment, both for mutation carriers management and prevention strategies. In practice, this survival function is classically estimated from pedigrees data where most genotypes are unobserved. In this article, we present a unifying Expectation-Maximization (EM) framework combining probabilistic computations in Bayesian networks with standard statistical survival procedures in order to provide mutation carrier survival estimates. The proposed approach allows to obtain previously published parametric estimates (e.g. Weibull survival) as particular cases as well as more general Kaplan-Meier non-parametric estimates, which is the main contribution. Note that covariates can also be taken into account using a proportional hazard model. The whole methodology is both validated on simulated data and applied to family samples with transthyretin-related hereditary amyloidosis (a rare autosomal dominant disease with highly variable age of onset), showing very promising results.

sted, utgiver, år, opplag, sider
Public Library Science , 2018. Vol. 13, nr 9, artikkel-id e0203860
HSV kategori
Identifikatorer
URN: urn:nbn:se:umu:diva-155035DOI: 10.1371/journal.pone.0203860ISI: 000445639700014PubMedID: 30252892OAI: oai:DiVA.org:umu-155035DiVA, id: diva2:1276055
Tilgjengelig fra: 2019-01-07 Laget: 2019-01-07 Sist oppdatert: 2019-01-07bibliografisk kontrollert

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