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Published February 21, 2025 | Version v2
Dataset Open

4967 Phenopackets and Prompts in 9 Languages for LLM Evaluation

Authors/Creators

  • 1. ROR icon Berlin Institute of Health at Charité - Universitätsmedizin Berlin
  • 2. ROR icon Lawrence Berkeley National Laboratory
  • 3. The Jackson Laboratory for Genomic Medicine

Description

Collection of 4967 GA4GH Phenopackets and of prompts generated from them in 9 languages. Used in project about multilingual capability of GPT-4o in rare genetic disease diagnostics.

Phenopacket Store version 0.1.19. Phenopackets found here are the subset for which all HPO terms are known in the 9 languages, using HPO version 2024-12-12 

https://github.com/monarch-initiative/phenopacket2prompt

https://github.com/monarch-initiative/pheval.llm

Files

ppkts_alltranslations.zip

Files (73.6 MB)

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md5:e72715f8549f5a14b78388a1ac922c72
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