Louis Le Nézet, Jason Sinnwell, Anna Letko, Catherine André, Pascale Quignon
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引用次数: 0
Abstract
Motivation: 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.
Results: 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.
Availability and implementation: 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.
动机:了解亲属关系是遗传研究的基础,特别是在遗传连锁研究和群体遗传学的背景下。系谱设计和分析是这些调查的先决条件。传统的亲属关系CRAN包一直是这一领域的基石;然而,处理更大和更复杂的数据集需要一个更新的、灵活的和用户友好的工具集。为了解决这一问题,我们提出了一种新的Bioconductor软件包pediexplorer,该软件包旨在增强具有现代功能和可用性的亲属关系分析,特别是在具有近亲繁殖循环的大型多代复杂谱系中,这在家畜育种中很常见。结果:Pedixplorer建立在强健的kinship2基础之上,整合了Bioconductor标准和最新的编程实践。它的核心组件是S4系谱对象,可以有效地表示复杂的系谱。新功能支持自动查询、过滤和修剪大型谱系,而图形功能已被重写,以便在谱系可视化中更好地自定义。此外,Pedixplorer提供了一个全面的Shiny应用程序,可以在本地访问,也可以通过专门的网站访问,允许非r用户轻松创建、过滤和自定义谱系。可用性:Pedixplorer软件包可在:https://www.bioconductor.org/packages/release/bioc/html/Pedixplorer.html免费获得,附加文档可在https://louislenezet.github.io/Pedixplorer获得。一个用户友好的网络应用程序可在:https://pedixplorer.univ-rennes.fr.Supplementary . information .补充数据可在Bioinformatics在线获得。