Biomarkers of Diseases

Since November, six students of three different faculties ('Faculty of Psychology and Neuroscience', 'Department of Data Science and Knowledge Engineering' and the 'Faculty of Law') are aiding me in digitising biomarker information related to inherited metabolic diseases. They are working on this project as an extracurricular activity, called Honours+. What we want to do, is the following:

1. Add the biological pathways related to these diseases to WikiPathway (example see this pathway on Neurotransmitter Diseases).
2. Add information on biomarkers to a .ttl file on Github (which we can use to transform our data to an RDF-structured database).
3. Perform queries on digitised biomarker info; perhaps we could do a federated SPARQL query with Wikidata, to find literature? Or find out is similar biomarkers are measured for different diseases? Validate the OMIM-links with proteins/genes we can pull out of BridgeDb? etc.

Ideas and thoughts are welcome! And the progress of the project will be reported here.


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