Abstract
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.
Funder
National Human Genome Research Institute
Publisher
Springer Science and Business Media LLC
Subject
Applied Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Structural Biology
Reference6 articles.
1. Carver T, Cunningham AP, Babb C, de Villiers A, Lee SH, Tischkowitz M, Walter FM, Easton DF, Antoniou AC. Pedigreejs: a web-based graphical pedigree editor. Bioinformatics. 2018;34(6):1069–71.
2. Dausset J, Cann H, Cohen D, Lathrop M, Lalouel JM, White R. Centre D’etude Du Polymorphisme Humain (CEPH): collaborative genetic mapping of the human genome. Genomics. 1990;6(3):575–7.
3. Geraldine_VdAuwera. “Pedigree / PED Files.” GATK-Forum. 2016. https://gatkforums.broadinstitute.org/gatk/discussion/7696/pedigree-ped-files. Accessed 12 Feb 2020.
4. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, et al. The genome analysis toolkit: a mapreduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297–303.
5. Sinnwell JP, Therneau TM, Schaid DJ. The kinship2 R package for pedigree data. Hum Hered. 2014;78(2):91–3.
Cited by
3 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献