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README.md

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Datasource

GTRx, created by Rady Children's Institute for Genomic Medicine (RCIGM), is a virtual, automated system for acute management guidance for seriously ill newborns, infants and children with newly diagnosed genetic diseases.

GTRx links rare diseases (and genes underlying those rare diseases) to therapies (mostly drugs, but also dietary adjustments, surgery, etc.). It provided a database dump in a very sparse CSV with ~457 rows/records (one for each unique disease/gene pair) and ~4600 columns (with all interventions, provenance, evidence, etc. captured in columns).

Plugin

This repo is the Biothings plugin for GTRx. The requirements are discussed in pending.api - Issue#62