Bring Helix GenoSphere™ — a growing research clinico-genomic dataset of more than 500,000 exome-sequenced participants with linked longitudinal EHR data — directly into Claude. Query gene-level carrier counts and pathogenic variants, determine target genes on curated panels, search standardized medical vocabularies (conditions, drugs, labs), and obtain privacy-protected patient counts for any concept. All responses are aggregated and statistically de-identified, with small groups suppressed to protect participant privacy. A read-only window into population-scale genomics, no SQL required.
Tools
- get_variant_frequency
- check_gene_availability
- get_dataset_overview
- search_concepts
- get_patient_count
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