Helix GenoSphere

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.

You can use Helix GenoSphere to:

Explore variant frequencies:
"What is the carrier frequency for BRCA1 pathogenic variants in the dataset?"

Size a patient cohort:
"How many participants have a recorded Type 2 diabetes diagnosis?"

Look up clinical concepts:
"Search the standardized vocabulary for medications related to metformin."