Reliable methods 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, 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 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. The penetrance R package is freely available on CRAN, with accompanying documentation and examples.

翻译：可靠的遗传外显率（携带特定基因变异者的年龄特异性风险）估计方法对于改进遗传性综合征的临床决策和风险评估至关重要。本文介绍 penetrance，一个开源 R 软件包，用于利用家族史谱系数据估计年龄特异性外显率。该软件包采用贝叶斯估计方法，允许通过设定携带者分布参数的先验分布来纳入先验知识。它还包含在估计过程中填补缺失年龄的选项，以解决谱系数据集中常见的年龄信息不完整问题。我们的软件为研究人员在复杂的家族研究中估计外显率提供了一个灵活且用户友好的工具，有助于改进遗传性综合征的遗传风险评估。penetrance R 软件包可在 CRAN 上免费获取，并附有详细的说明文档和示例。