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

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 e...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10198526/
https://www.ncbi.nlm.nih.gov/pubmed/37080557
http://dx.doi.org/10.1093/jamia/ocad061