Dynamic computation of variant annotations using GA4GH Variant Annotations plus FHIR Genomics
- Mentors
- Bret Heale, Bob Dolin, Shailesh Gothi, Srikar Chamala
- Organization
- Global Alliance for Genomics and Health
- Technologies
- python, mongodb
- Topics
- genomics, FHIR, GA4GH Variant Annotation, FHIR Genomics Operations, Knowledge Base
This project aims to demonstrate sharing of annotated genomic variants between clinicians and knowledge bases using a clinical decision support (CDS) pipeline that dynamically integrates a patient's variants with current knowledge. The CDS pipeline will leverage draft GA4GH Variant Annotation (VA)-encoded knowledge and deliver FHIR-encoded diagnostic and therapeutic implications. It is anticipated that this project will demonstrate opportunities for closer collaboration between the GA4GH and FHIR communities.