Abstract
MotivationThe collection, management and visualization of clinical pedigree (family history) data is a core activity in clinical genetics centres. However, clinical pedigree datasets can be difficult to manage, as they are time consuming to capture, and can be difficult to build, manipulate and visualize graphically. Several standalone graphical pedigree editors and drawing applications exist but there are no freely available lightweight graphical pedigree editors that can be easily configured and incorporated into web applications.ResultsWe developed ‘pedigreejs’, an interactive graphical pedigree editor written in JavaScript, which uses standard pedigree nomenclature. Pedigreejs provides an easily configurable, extensible and lightweight pedigree editor. It makes use of an open-source Javascript library to define a hierarchical layout and to produce images in scalable vector graphics (SVG) format that can be viewed and edited in web browsers.Availability and implementationThe software is freely available under GPL licence (https://ccge-boadicea.github.io/pedigreejs/).Supplementary information Supplementary data are available at Bioinformatics online.
Highlights
The collection, management and visualization of pedigree data is a core activity in clinical settings, such as genetic centres and primary care, where healthcare professionals manage patients at risk of disease
Clinical pedigree datasets can be difficult to manage for several reasons: (i) they are supplied by humans not machines, and are time consuming to capture in digital form; (ii) they include both family structure and separate information for each family member; (iii) they often require updating over time; (iv) they can include data errors and internal
After evaluating available tools we found no freely available lightweight pedigree drawing tools that could be incorporated into other web applications, and configured to provide a means of capturing and visualising pedigree data
Summary
The collection, management and visualization of pedigree (family history) data is a core activity in clinical settings, such as genetic centres and primary care, where healthcare professionals manage patients at risk of disease. Pedigree data are used to identify individuals at risk of familial disease and to inform their clinical management, including referral of individuals at elevated risk for mutation screening and/or recommending enhanced screening. Clinical pedigree datasets can be difficult to manage for several reasons: (i) they are supplied by humans not machines, and are time consuming to capture in digital form; (ii) they include both family structure (which can be difficult to visualize in the presence of complex structure and still remain clear and comprehensible) and separate information for each family member (which must be linked); (iii) they often require updating over time; (iv) they can include data errors (e.g. broken family structures) and internal
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