• Andrej Griniuk, Developer
• Christopher Michaelides, UX/UI

A frequent task in clinical genetics and genetics research is the tracking of clinical features through patient families and linking them to genetic variants. This is frequently conducted through pedigree drawings (family trees). Unfortunately, due to the lack of easy-to-use pedigree drawing programs, this is usually done manually on a piece of paper. This makes pedigree drawings difficult to edit, manipulate and also precludes any computational analysis. For example, you cannot click on an individual in a paper-drawn pedigree to open the associated database record.

The Phenotips Project has a nice pedigree drawing tool, but its not freestanding. The Phenotips Team has been planning to make it freestanding, there is already an open issue on their Github page: https://github.com/phenotips/phenotips/issues/841 . I have contacted the Phenotips Team and they would be pleased if we could help them with this task. They will participate remotely and answer questions etc.

A prototype tool which will allow researchers and clinicians to compile pedigree drawings and export the diagram information in a standard file format. The tool is easy to use and integrate into existing frameworks.

• In line with pedigree drawing conventions
• Editable
• Exportable
• Stand-alone
• Multiplatform (Mac, PC, Tablets, Browser)
• Ready to use now

• male and female entities;
• identify deceased entities;
• entities affected by diseases;
• specify relationships: parent, child, siblings;
• import and export your work in a nice PED format.

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Describe how your project is saving the world.

The ability to compile accurate clinician data records will lead to better outcomes for patients. An improvement from the base solution of a hand-drawn pedigree diagrams to an editable diagram tool is a marked improvement in terms of time to generate and functionality. It can be used to compile pedigree diagrams for any condition and any medical field that requires such diagrams.

• Link to github repository
• Link to Desktop versions (Mac & PC)
• Link to Web App version
• Link to youtube video

• Phenotips
• HTML, CSS, JavaScript
• node-webkit

Since we wanted to produce a finalised software application that could be downloaded at the end of the HealthHack and used by researchers right away, Time was of the essence, and we ensured that we could deliver a working solution to meet the direct needs of our problem owner. We were able to achieve all the scope requested by our problem owner. And was able to test for install to Mac and PC.