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Published 20 hours ago • verified publisher icon FAIRplus

Interoperability Representing Phenotypic Information - GA4GH Phenopacket Specification

Open proccaserra opened this issue 4 years ago • 1 comments

Suggested/Brought up by @weiguUL

  • [ ] why it matters https://www.ga4gh.org/news/phenopackets-standardizing-and-exchanging-patient-phenotypic-data/
  • [ ] introduce the Phenopacket specification: https://phenopackets-schema.readthedocs.io/_/downloads/en/latest/pdf/
  • [ ] how it can be used https://hpo.jax.org/app/
  • [ ] document exiting / known ETL from established formats (e.g. FHIR,OMOP,CDISC)
  • [ ] Phenopacket at BioSamples

proccaserra avatar Mar 11 '21 11:03 proccaserra

@biohackathon-2022, discussion with Nuria about this content: https://github.com/elixir-europe/biohackathon-projects-2021/blob/main/projects/36/bhxiv/paper.md

@daniwelter

proccaserra avatar Nov 09 '22 14:11 proccaserra