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.

翻译：可靠的渗透率（携带特定基因变异个体的年龄特异性风险）估计工具与软件对于改进遗传性综合征的临床决策与风险评估至关重要。本文介绍渗透率——一个可通过CRAN获取的开源R软件包，该包利用家族史谱系数据估计年龄特异性渗透率。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整合先验知识。其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。我们的开源软件为研究人员在复杂家族研究中提供了灵活易用的渗透率估计工具，有助于提升遗传性综合征的遗传风险评估水平。