Platforms involved: AnVIL & Kids First
Scientific lead(s): TBD
Platform leaders: Robert Carroll & Meen Chul Kim
Datasets: Centers for Mendelian Genomics (CMGs, which specific studies), Kids First (which specific studies?)
One pager description: (what research question to be answered, plan of data use and analysis) - in development.
Use Case: Propose best practices for structuring study-level information in FHIR from rare disease studies. Incorporate into NCPI FHIR Implementation Guide https://github.com/NIH-NCPI/ncpi-fhir-igFunding resources: AnVIL parent funding, ODSS supplement to Kids First DRC
Platforms involved: AnVIL & Kids First Scientific lead(s): TBD Platform leaders: Robert Carroll & Meen Chul Kim Datasets: Centers for Mendelian Genomics (CMGs, which specific studies), Kids First (which specific studies?) One pager description: (what research question to be answered, plan of data use and analysis) - in development. Use Case: Propose best practices for structuring study-level information in FHIR from rare disease studies. Incorporate into NCPI FHIR Implementation Guide https://github.com/NIH-NCPI/ncpi-fhir-ig Funding resources: AnVIL parent funding, ODSS supplement to Kids First DRC