fairgenomes/fairgenomes-semantic-model

Make FAIR Genomes cross-species compatible

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Development of the FAIR Genomes schema has taken place in the context of human genomics. This has resulted in a human-centered schema, but we are eager to expand into other organisms to achieve cross-species interoperability.

Proposed adjustments to future (overhauled) versions of the schema include:

  • The extension of smaller lookup lists (e.g. adding non-human reference genomes and ancestries)
  • Providing alternatives for larger lookup lists (e.g. organism-specific genes and phenotypes)
  • Generalization of terms (e.g. renaming Personal to Subject)
  • Redefinition of terms (e.g. broaden Functioning beyond human patients)
  • Re-evaluation of terms originally intended for humans that are actually applicable to most diploid organisms (e.g. family members, gender and sex).

The work of the Genomics Standards Consortium, www.gensc.org, could serve as a reference for multi-organism compatibility.

A good first step could be to explicitly label any elements that are currently human-specific as such. This can open up the discussion for these particular elements.