Le Nézet Louis, Sinnwell Jason, Letko Anna, André Catherine, Quignon Pascale
Univ Rennes, CNRS, IGDR (Institut de Génétique et Développement de Rennes) - UMR6290, Rennes 35000, France.
Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55905, United States.
Bioinformatics. 2025 Jun 2;41(6). doi: 10.1093/bioinformatics/btaf329.
Understanding kinship relationships is fundamental to genetic research, particularly in the context of genetic linkage studies and population genetics. Pedigree design and analysis are a prerequisite for these investigations. The legacy kinship2 CRAN package has been a cornerstone in this area; however, the need for handling larger and more complex datasets necessitates an updated, flexible, and user-friendly toolset. To address this issue, we present Pedixplorer, a novel Bioconductor package designed to enhance kinship analyses with modern functionality and usability, especially in large multigeneration complex pedigrees with inbreeding loops, which are frequently seen in domestic animal breeding.
Pedixplorer builds upon the robust foundation of kinship2, integrating Bioconductor standards and most recent programming practices. Its core component is the S4 Pedigree object, facilitating efficient representation of complex pedigrees. The new functions enable automatic querying, filtering, and trimming of large pedigrees, while the graphical functions have been rewritten for better customization in pedigree visualizations. Additionally, Pedixplorer offers a comprehensive Shiny application, accessible both locally and via a dedicated website, allowing non-R users to easily create, filter, and customize pedigrees.
The Pedixplorer package is freely available at: https://www.bioconductor.org/packages/release/bioc/html/Pedixplorer.html with additional documentation at https://louislenezet.github.io/Pedixplorer. A user-friendly web application is available at: https://pedixplorer.univ-rennes.fr.
了解亲属关系是基因研究的基础,特别是在基因连锁研究和群体遗传学的背景下。系谱设计和分析是这些研究的先决条件。传统的kinship2 CRAN软件包一直是该领域的基石;然而,处理更大、更复杂的数据集需要一个更新、灵活且用户友好的工具集。为了解决这个问题,我们推出了Pedixplorer,这是一个新颖的Bioconductor软件包,旨在通过现代功能和可用性增强亲属关系分析,特别是在具有近亲繁殖环的大型多代复杂系谱中,这种系谱在家畜育种中经常出现。
Pedixplorer建立在kinship2的坚实基础之上,整合了Bioconductor标准和最新的编程实践。其核心组件是S4系谱对象,便于高效表示复杂系谱。新功能能够自动查询、过滤和修剪大型系谱,同时图形功能已被重写,以便在系谱可视化中进行更好的定制。此外,Pedixplorer提供了一个全面的Shiny应用程序,可在本地和通过专用网站访问,使非R用户能够轻松创建、过滤和定制系谱。
Pedixplorer软件包可在以下网址免费获取:https://www.bioconductor.org/packages/release/bioc/html/Pedixplorer.html,更多文档可在https://louislenezet.github.io/Pedixplorer获取。一个用户友好的网络应用程序可在以下网址获取:https://pedixplorer.univ-rennes.fr。