Genetic data normalization for genomic medicine: a Fast Healthcare Interoperability Resources Genomics reference implementation
While we report on our experience successfully encapsulating genomic data normalization in FHIR Genomics Operations, the challenges and solutions identified are broadly applicable to many other contexts.
Authors
- Srikar Chamala (ORCID: https://orcid.org/0000-0001-6367-7615)
- Robert H. Dolin (ORCID: https://orcid.org/0000-0002-6235-6964)
- Ammar Husami (ORCID: https://orcid.org/0000-0002-4287-2857)
- Bret S.E. Heale (ORCID: https://orcid.org/0000-0001-8190-9918)
- James Shalaby
- N. Todor (ORCID: https://orcid.org/0000-0002-8526-1263)
- Huda Arsalan
- Eshani Shah
- Nedah Basravi
- Akash Rampersad
Institutions
- University of Southern California (US)
- Cincinnati Children's Hospital Medical Center (US)
- Children's Hospital of Los Angeles (US)
- Cerritos College (US)
- Touro University California (US)
- Oaks Hospital (GB)
- Utah Department of Health (US)
- Dublin Independent School District (US)
- Indiana University – Purdue University Indianapolis (US)
- University of Cincinnati Medical Center (US)
Publication Details
- Journal
- Journal of the American Medical Informatics Association
- Published
- 2025-08-07
- DOI
- https://doi.org/10.1093/jamia/ocaf136
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82