The penetrance R package for Estimation of Age Specific Risk in Family-based Studies

Nicolas Kubista; Danielle Braun; Giovanni Parmigiani

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arXiv · 2411.18816

The penetrance R package for Estimation of Age Specific Risk in Family-based Studies

Nicolas Kubista·Danielle Braun·Giovanni Parmigiani

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Abstract

Reliable tools and software for penetrance (age-specific risk among those who carry a genetic variant) estimation are critical to improving clinical decision making and risk assessment for hereditary syndromes. We introduce penetrance, an open-source R package available on CRAN, to estimate age-specific penetrance using family-history pedigree data. The package employs a Bayesian estimation approach, allowing for the incorporation of prior knowledge through the specification of priors for the parameters of the carrier distribution. It also includes options to impute missing ages during the estimation process, addressing incomplete age information which is not uncommon in pedigree datasets. Our open-source software provides a flexible and user-friendly tool for researchers to estimate penetrance in complex family-based studies, facilitating improved genetic risk assessment in hereditary syndromes.

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Nicolas Kubista, Danielle Braun, Giovanni Parmigiani. 2024-11-27. The penetrance R package for Estimation of Age Specific Risk in Family-based Studies. https://arxiv.org/abs/2411.18816

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