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Phenopacket-tools: Building and validating GA4GH Phenopackets

Written by PLOS ONE on May 25, 2023

The Phenopacket Schema developed by DBMI researchers is flexible and can represent clinical data for any kind of human disease including rare disease, complex disease, and cancer. It also allows consortia or databases to apply additional constraints to ensure uniform data collection for specific goals.

Topics: Press Coverage

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