{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T08:52:38Z","timestamp":1767084758660,"version":"3.37.3"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,12,9]],"date-time":"2020-12-09T00:00:00Z","timestamp":1607472000000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["R01HG009000","R01HG009712"],"award-info":[{"award-number":["R01HG009000","R01HG009712"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Bioinformatics"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>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.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Here we describe <jats:italic>ped_draw<\/jats:italic> a command line and web tool as a simple and easy solution to pedigree visualization. <jats:italic>Ped_draw<\/jats:italic> 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, <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/peddraw.github.io\">https:\/\/peddraw.github.io<\/jats:ext-link>, 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.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>We believe <jats:italic>ped_draw<\/jats:italic> is a useful pedigree drawing tool that improves on current methods due to its ease of use and approachability. <jats:italic>Ped_draw<\/jats:italic> allows users with various levels of expertise to quickly and easily visualize pedigrees.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12859-020-03917-4","type":"journal-article","created":{"date-parts":[[2020,12,9]],"date-time":"2020-12-09T18:18:08Z","timestamp":1607537888000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["ped_draw: pedigree drawing with ease"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3350-8647","authenticated-orcid":false,"given":"Matt","family":"Velinder","sequence":"first","affiliation":[]},{"given":"Dillon","family":"Lee","sequence":"additional","affiliation":[]},{"given":"Gabor","family":"Marth","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2020,12,9]]},"reference":[{"issue":"6","key":"3917_CR1","doi-asserted-by":"publisher","first-page":"1069","DOI":"10.1093\/bioinformatics\/btx705","volume":"34","author":"T Carver","year":"2018","unstructured":"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\u201371.","journal-title":"Bioinformatics"},{"issue":"3","key":"3917_CR2","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1016\/0888-7543(90)90491-C","volume":"6","author":"J Dausset","year":"1990","unstructured":"Dausset J, Cann H, Cohen D, Lathrop M, Lalouel JM, White R. Centre D\u2019etude Du Polymorphisme Humain (CEPH): collaborative genetic mapping of the human genome. Genomics. 1990;6(3):575\u20137.","journal-title":"Genomics"},{"key":"3917_CR3","unstructured":"Geraldine_VdAuwera. \u201cPedigree \/ PED Files.\u201d GATK-Forum. 2016. https:\/\/gatkforums.broadinstitute.org\/gatk\/discussion\/7696\/pedigree-ped-files.\u00a0Accessed 12 Feb 2020."},{"issue":"9","key":"3917_CR4","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"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\u2013303.","journal-title":"Genome Res"},{"issue":"2","key":"3917_CR5","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1159\/000363105","volume":"78","author":"JP Sinnwell","year":"2014","unstructured":"Sinnwell JP, Therneau TM, Schaid DJ. The kinship2 R package for pedigree data. Hum Hered. 2014;78(2):91\u20133.","journal-title":"Hum Hered"},{"issue":"14","key":"3917_CR6","doi-asserted-by":"publisher","first-page":"1854","DOI":"10.1093\/bioinformatics\/btm242","volume":"23","author":"EH Trager","year":"2007","unstructured":"Trager EH, Khanna R, Marrs A, Siden L, Branham KEH, Swaroop A, Richards JE. Madeline 2.0 PDE: a new program for local and web-based pedigree drawing. Bioinformatics. 2007;23(14):1854\u20136.","journal-title":"Bioinformatics"}],"container-title":["BMC Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12859-020-03917-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12859-020-03917-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12859-020-03917-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,12,9]],"date-time":"2020-12-09T18:19:08Z","timestamp":1607537948000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcbioinformatics.biomedcentral.com\/articles\/10.1186\/s12859-020-03917-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["3917"],"URL":"https:\/\/doi.org\/10.1186\/s12859-020-03917-4","relation":{},"ISSN":["1471-2105"],"issn-type":[{"type":"electronic","value":"1471-2105"}],"subject":[],"published":{"date-parts":[[2020,12]]},"assertion":[{"value":"27 March 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 December 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 December 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"569"}}