Fig. 2: Flowchart of the development of Genome-To-Treatment (GTRx), a virtual system for acute management guidance for rare genetic diseases. | Nature Communications

Fig. 2: Flowchart of the development of Genome-To-Treatment (GTRx), a virtual system for acute management guidance for rare genetic diseases.

From: An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Fig. 2

Phase 1 - Compilation of a comprehensive gene-genetic disease list for severe, childhood-onset conditions in which an established treatment was available. Phase 2, integration of 13 information resources pertaining to rare genetic diseases. Phase 3, development of the GTRx web resource containing the integrated information resources. Phase 4, automated, artificial intelligence (AI)-based searching and manual curation of published evidence of treatments for each condition by three companies. Phase 5, development of a custom REDCap system for structured assessment of genes, disorders, and therapeutic interventions. Phase 6a, independent manual review of curated interventions and assertions for the first 15 pilot gene-disease pairs by five experts. Phase 6b, primary and secondary reviews of the remaining gene-disease pairs. Phase 7, round-table discussion of records lacking consensus. Phase 8, upload of retained consensus records to the GTRx web resource.

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