Implementation of gene expression profiles in the HL7 FHIR standard

  • Gene expression profiles can capture significant molecular differences paving the way toward precision medicine. However, clinical standards like FHIR only provide encoding of molecular sequence variations, even so, expression patterns are equally important for decision making. Here we provide an exemplary implementation of gene expression profiles of a microarray analysis using an adaption of the FHIR Genomics extension. Our results demonstrate how FHIR resources can be facilitated in bioinformatics-based decision support systems or used for the aggregation of molecular genetics data in multi-center clinical trials.

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Metadaten
Author:Florian AuerORCiDGND, Zhibek Abdykalykova, Dominik MüllerORCiDGND, Frank KramerORCiDGND
URN:urn:nbn:de:bvb:384-opus4-961064
Frontdoor URLhttps://opus.bibliothek.uni-augsburg.de/opus4/96106
ISBN:978-1-64368-284-6OPAC
ISSN:0926-9630OPAC
ISSN:1879-8365OPAC
Parent Title (English):Challenges of trustable AI and added-value on health: proceedings of MIE 2022
Publisher:IOS Press
Place of publication:Amsterdam
Editor:Brigitte Séroussi, Patrick Weber, Ferdinand Dhombres, Cyril Grouin, Jan-David Liebe, Sylvia Pelayo, Andrea Pinna, Bastien Rance, Lucia Sacchi, Adrien Ugon, Arriel Benis, Parisis Gallos
Type:Conference Proceeding
Language:English
Year of first Publication:2022
Publishing Institution:Universität Augsburg
Release Date:2022/06/15
First Page:417
Last Page:418
Series:Studies in Health Technology and Informatics ; 294
DOI:https://doi.org/10.3233/shti220490
Institutes:Fakultät für Angewandte Informatik
Fakultät für Angewandte Informatik / Institut für Informatik
Fakultät für Angewandte Informatik / Institut für Informatik / Lehrstuhl für IT-Infrastrukturen für die Translationale Medizinische Forschung
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Licence (German):CC-BY-NC 4.0: Creative Commons: Namensnennung - Nicht kommerziell