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Title:

Creation of a structured molecular genomics report for Germany as a local adaption of HL7's Genomic Reporting Implementation Guide.

Document type:
Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Stellmach, Caroline; Sass, Julian; Auber, Bernd; Boeker, Martin; Wienker, Thomas; Heidel, Andrew J; Benary, Manuela; Schumacher, Simon; Ossowski, Stephan; Klauschen, Frederick; Möller, Yvonne; Schmutzler, Rita; Ustjanzew, Arsenij; Werner, Patrick; Tomczak, Aurelie; Hölter, Thimo; Thun, Sylvia
Abstract:
OBJECTIVE: The objective was to develop a dataset definition, information model, and FHIR® specification for key data elements contained in a German molecular genomics (MolGen) report to facilitate genomic and phenotype integration in electronic health records. MATERIALS AND METHODS: A dedicated expert group participating in the German Medical Informatics Initiative reviewed information contained in MolGen reports, determined the key elements, and formulated a dataset definition. HL7's Genomics...     »
Journal title abbreviation:
J Am Med Inform Assoc
Year:
2023
Journal volume:
30
Journal issue:
6
Pages contribution:
1179-1189
Fulltext / DOI:
doi:10.1093/jamia/ocad061
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37080557
Print-ISSN:
1067-5027
TUM Institution:
1072; 183; Lehrstuhl für Medizinische Informatik (Prof. Boeker)
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