Genome-to-Treatment
Genome-to-Treatment (GTRx) is a NCATS Translator knowledge provider exposed through a BioThings API. It contains recommended acute treatments and interventions for seriously ill newborns, infants, and children with newly diagnosed genetic diseases, including therapeutics, dietary changes, surgery, medical devices, and other interventions.
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{"activity_status": "active", "category": "Aggregator", "contacts": [{"category": "Organization", "contact_details": [{"contact_type": "url", "value": "https://biothings.ncats.io/gtrx"}], "label": "NCATS Translator"}], "creation_date": "2025-11-05T00:00:00Z", "description": "Genome-to-Treatment (GTRx) is a NCATS Translator knowledge provider exposed through a BioThings API. It contains recommended acute treatments and interventions for seriously ill newborns, infants, and children with newly diagnosed genetic diseases, including therapeutics, dietary changes, surgery, medical devices, and other interventions.", "domains": ["genomics", "pharmacology", "precision medicine", "biomedical"], "homepage_url": "https://biothings.ncats.io/gtrx", "id": "gtrx", "infores_id": "gtrx", "last_modified_date": "2026-06-02T00:00:00Z", "layout": "resource_detail", "name": "Genome-to-Treatment", "products": [{"category": "ProgrammingInterface", "connection_url": "https://biothings.ncats.io/gtrx/query", "description": "BioThings API for querying Genome-to-Treatment association records through `/query`, `/metadata`, and related BioThings endpoints", "format": "json", "id": "gtrx.api", "infores_id": "biothings-gtrx", "is_public": true, "latest_version": "2022-02-01", "name": "gTRx API", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "gtrx"}], "product_url": "https://biothings.ncats.io/gtrx", "secondary_source": [{"relation_type": "prov:wasDerivedFrom", "source": "biothings"}]}, {"category": "Product", "description": "BioThings GTRx association collection built from Genome-to-Treatment source records; the 20220802 build reports 695 association records", "format": "mixed", "id": "gtrx.data", "latest_version": "20220802", "name": "gTRx Data", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "gtrx"}], "product_url": "https://biothings.ncats.io/gtrx/metadata", "secondary_source": [{"relation_type": "prov:wasInformedBy", "source": "ncbigene"}, {"relation_type": "prov:wasInformedBy", "source": "mondo"}, {"relation_type": "prov:wasInformedBy", "source": "pubchem"}], "warnings": ["File was not able to be retrieved when checked on 2026-06-05: HTTP 405 error when accessing file", "The historical source website reported in the BioThings metadata, https://gtrx.rbsapp.net/about.html, returned HTTP 404 during curation on 2026-06-02."]}], "publications": [{"authors": ["Mallory J. Owen", "Sebastien Lefebvre", "Christian Hansen", "Chris M. Kunard", "David P. Dimmock", "Laurie D. Smith", "Gunter Scharer", "Rebecca Mardach"], "doi": "10.1038/s41467-022-31446-6", "id": "doi:10.1038/s41467-022-31446-6", "journal": "Nature Communications", "preferred": true, "title": "An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases", "year": "2022"}], "repository": "https://github.com/biothings/GTRx", "synonyms": ["gTRx", "GTRx", "Genome-to-Treatment"], "tags": ["translator"], "taxon": ["NCBITaxon:9606"]}