Phenomics Hackathon
Dates: May 29-30, 2018
Location: Global Alliance for Genomics and Health Leadership meeting, Toronto, Canada
Focus areas
The hackathon focus was on further developing exchange mechanisms for phenomic data amongst clinical systems, clinical labs, knowledgebases, and journals in support of discovery, search, and algorithmic use of G2P data. The hackathon advanced the Phenopackets standard, investigated and developed exchange mechanisms between FHIR and Phenopackets, and investigated use cases for both FHIR and Phenopackets in the exchange of clinical and phenotypic data for genomic medicine. How might they be used in a synergistic and complementary fashion, specifically with ontologically represented content? e.g. can a Phenopacket be derived from FHIR resources? Can a Phenopacket be made available as a FHIR resource? This work relates to the tasks of the Clinical & Phenotypic Data Capture Work Stream of GA4GH, sub-group 2 in particular.