Standard FHIR clinical genomic operations for genetic data
summary
Genomic FHIR operations normalize disparate representations (HGVS, genomic or coding fields, liftover) and return a consistent VCF-like response so apps need one parser. The reference implementation uses SPDI normalization, indexes VCF/BCF and runs on a MongoDB-backed reference implementation, includes Swagger and Postman examples, and contains ~1,000 Genomes test data (~500 MB) so typical queries complete with low latency in practice. Operations include find-subject-variant, find-population-variant, and a coordinates utility.
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