Integrating Genomics and Clinical Data for Statistical Analysis by Using GEnome MINIng (GEMINI) and Fast Healthcare Interoperability Resources (FHIR): System Design and Implementation.

Journal: Journal of medical Internet research
PMID: 33026356

Abstract

BACKGROUND: The introduction of next-generation sequencing (NGS) into molecular cancer diagnostics has led to an increase in the data available for the identification and evaluation of driver mutations and for defining personalized cancer treatment regimens. The meaningful combination of omics data, ie, pathogenic gene variants and alterations with other patient data, to understand the full picture of malignancy has been challenging.

Authors

  • Julian Gruendner
    Chair of Medical Informatics, Friedrich-Alexander-University Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Nicolas Wolf
    Chair of Medical Informatics, Friedrich-Alexander-University Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Lars Tögel
    Diagnostic Molecular Pathology, Institute of Pathology, Friedrich-Alexander University, Erlangen-Nürnberg, Erlangen, Germany.
  • Florian Haller
    Diagnostic Molecular Pathology, Institute of Pathology, Friedrich-Alexander University, Erlangen-Nürnberg, Erlangen, Germany.
  • Hans-Ulrich Prokosch
    Institute for Medical Informatics, University Erlangen-Nuremberg, Erlangen, Germany; Center for Medical Information and Communication, Erlangen University Hospital, Erlangen, Germany.
  • Jan Christoph
    Medical Informatics, Friedrich-Alexander University, Erlangen-Nürnberg, Erlangen, Germany.

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