ArticlePloS one2018
Non-parametric estimation of survival in age-dependent genetic disease and application to the transthyretin-related hereditary amyloidosis.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Penetrance of interstitial lung disease and lung cancer in carriers ofERJ open research · 2025Article
- Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca.Orphanet journal of rare diseases · 2023Article
- Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv.PloS one · 2023Article
- Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.Genome medicine · 2022Article
- Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- A new linear regression-like residual for survival analysis, with application to genome wide association studies of time-to-event data.PloS one · 2020Article
Corrections and comments
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Authors and funding
4 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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