monarch-initiative / phenomics_first_resource

Project Management repository for anything in and around the Phenomics First Resource (PFR)
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Aim 2.2 Develop disease-phenotype data model and collate resulting interoperable annotations #14

Open sagehrke opened 1 year ago

sagehrke commented 1 year ago

Objective

Multiple databases provide quality curated information about individual diseases, but the information differs in granularity, in data models, and in identifiers used​. We will devise and apply a unified data model for integrating this information from different disease resources.

Key results

Current ideas

We are hosting a Disease Naming Workshop with participants from ClinGen, WHO, GA4GH, and hopefully someone from ORPHAnet. Moni is driving this subaim, with guidance from Chris C, Melissa, Ada, & Peter. The thinking and design portion of the FTE falls on the entire community. The implementation portion of this will fall on Nicole’s and Sabrina’s lap, once we actually agree on a model.