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Framework of the Centralized Interactive Phenomics Resource (CIPHER) standard for electronic health data-based phenomics knowledgebase.

Jacqueline P HonerlawYuk-Lam HoFrancesca FontinJeffrey GosianMonika MaripuriMichael MurrayRahul SangarAshley GallowayAndrew J ZimolzakStacey B WhitbourneJuan P CasasRachel B RamoniDavid R GagnonTianxi CaiKatherine P LiaoJ Michael GazianoSumitra MuralidharKelly Cho
Published in: Journal of the American Medical Informatics Association : JAMIA (2023)
The development of phenotypes using electronic health records is a resource-intensive process. Therefore, the cataloging of phenotype algorithm metadata for reuse is critical to accelerate clinical research. The Department of Veterans Affairs (VA) has developed a standard for phenotype metadata collection which is currently used in the VA phenomics knowledgebase library, CIPHER (Centralized Interactive Phenomics Resource), to capture over 5000 phenotypes. The CIPHER standard improves upon existing phenotype library metadata collection by capturing the context of algorithm development, phenotyping method used, and approach to validation. While the standard was iteratively developed with VA phenomics experts, it is applicable to the capture of phenotypes across healthcare systems. We describe the framework of the CIPHER standard for phenotype metadata collection, the rationale for its development, and its current application to the largest healthcare system in the United States.
Keyphrases
  • electronic health record
  • healthcare
  • machine learning
  • public health
  • deep learning
  • clinical trial
  • clinical decision support
  • health information
  • big data
  • adverse drug
  • tertiary care
  • social media
  • health insurance