Synthetic phenoclinical exome data as a knowledge graph (turtle)

This dataset contains phenoclinical data and exome variation data which were simulated using real biological data from individuals carrying intracranial berry aneurysms who were participants in the French ICAN project. These data were created as part of task 2.1 of the PEPR Santé Numérique Neurovasc with the aim of creating “a FAIR genomic data demonstrator”. This dataset contains simulated phenoclinical data that was transformed to follow several state-of-the-art international standards such as the SPHN (Swiss Personalized Health Network) ontology. Exome variation data was transformed using state of the art ontology vocabulary terms and novel data schemas. The data are represented in the triple pattern syntax format Turtle. They can be loaded and used as part of a knowledge using graph database tools or RDF triplestore managers such as Apache Jena Fuzeki or Virtuoso. More information about this work can be found here. Using the above link, you can interact with the Turtle data using pre-written queries loaded in a streamlit web application.