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轻松绘制家系图。

ped_draw: pedigree drawing with ease.

机构信息

Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA.

出版信息

BMC Bioinformatics. 2020 Dec 9;21(1):569. doi: 10.1186/s12859-020-03917-4.

DOI:10.1186/s12859-020-03917-4
PMID:33297934
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7727153/
Abstract

BACKGROUND

Pedigree files are ubiquitously used within bioinformatics and genetics studies to convey critical information about relatedness, sex and affected status of study samples. While the text based format of ped files is efficient for computational methods, it is not immediately intuitive to a bioinformatician or geneticist trying to understand family structures, many of which encode the affected status of individuals across multiple generations. The visualization of pedigrees into connected nodes with descriptive shapes and shading provides a far more interpretable format to recognize visual patterns and intuit family structures. Despite these advantages of a visual pedigree, it remains difficult to quickly and accurately visualize a pedigree given a pedigree text file.

RESULTS

Here we describe ped_draw a command line and web tool as a simple and easy solution to pedigree visualization. Ped_draw is capable of drawing complex multi-generational pedigrees and conforms to the accepted standards for depicting pedigrees visually. The command line tool can be used as a simple one liner command, utilizing graphviz to generate an image file. The web tool, https://peddraw.github.io , allows the user to either: paste a pedigree file, type to construct a pedigree file in the text box or upload a pedigree file. Users can save the generated image file in various formats.

CONCLUSIONS

We believe ped_draw is a useful pedigree drawing tool that improves on current methods due to its ease of use and approachability. Ped_draw allows users with various levels of expertise to quickly and easily visualize pedigrees.

摘要

背景

系谱文件在生物信息学和遗传学研究中被广泛用于传达研究样本的亲缘关系、性别和患病状态等关键信息。虽然 ped 文件的基于文本的格式对于计算方法来说是高效的,但对于试图理解家族结构的生物信息学家或遗传学家来说,它并不直观,因为许多 ped 文件编码了个体在多个世代中的患病状态。将系谱可视化成带有描述形状和阴影的连接节点,提供了一种更易于理解的格式,可以识别视觉模式并直观地了解家族结构。尽管可视化系谱具有这些优势,但要快速准确地根据系谱文本文件绘制系谱仍然很困难。

结果

在这里,我们描述了 ped_draw,这是一个命令行和网络工具,它是一种简单易用的系谱可视化解决方案。Ped_draw 能够绘制复杂的多代系谱,并符合可视化系谱的公认标准。命令行工具可以作为一个简单的单行命令使用,利用 graphviz 生成图像文件。网络工具 https://peddraw.github.io 允许用户:粘贴系谱文件、在文本框中输入以构造系谱文件或上传系谱文件。用户可以将生成的图像文件以各种格式保存。

结论

我们认为 ped_draw 是一种有用的系谱绘制工具,由于其易用性和易接近性,它改进了当前的方法。Ped_draw 允许具有不同专业水平的用户快速轻松地可视化系谱。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9627/7727153/716e0f2cdbd0/12859_2020_3917_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9627/7727153/716e0f2cdbd0/12859_2020_3917_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9627/7727153/716e0f2cdbd0/12859_2020_3917_Fig1_HTML.jpg

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引用本文的文献

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QuickPed: an online tool for drawing pedigrees and analysing relatedness.QuickPed:一个用于绘制系谱图和分析亲缘关系的在线工具。

本文引用的文献

1
pedigreejs: a web-based graphical pedigree editor. pedigreejs:一个基于网络的图形系谱编辑器。
Bioinformatics. 2018 Mar 15;34(6):1069-1071. doi: 10.1093/bioinformatics/btx705.
2
The kinship2 R package for pedigree data.用于谱系数据的kinship2 R软件包。
Hum Hered. 2014;78(2):91-3. doi: 10.1159/000363105. Epub 2014 Jul 29.
3
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.基因组分析工具包:一种用于分析下一代 DNA 测序数据的 MapReduce 框架。
BMC Bioinformatics. 2022 Jun 7;23(1):220. doi: 10.1186/s12859-022-04759-y.
Genome Res. 2010 Sep;20(9):1297-303. doi: 10.1101/gr.107524.110. Epub 2010 Jul 19.
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Madeline 2.0 PDE: a new program for local and web-based pedigree drawing.玛德琳2.0遗传系谱绘制程序:一款用于本地及基于网络绘制系谱的新程序。
Bioinformatics. 2007 Jul 15;23(14):1854-6. doi: 10.1093/bioinformatics/btm242. Epub 2007 May 8.
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