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000285251 1001_ $$0P:(DE-2719)9001750$$aMauer, Karoline$$b0$$eFirst author$$udzne
000285251 245__ $$aSemantic alignment of the German Human Genome-Phenome Archive metadata model in Europe's genomics field.
000285251 260__ $$aLondon$$bNature Publ. Group$$c2026
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000285251 520__ $$aLegal and technical developments drive data sharing via federated infrastructures, especially in the field of human omics. This requires interoperability across technical, syntactic, organizational, and semantic layers. The German Human Genome-Phenome Archive (GHGA) has been building a national, federated infrastructure for secure sharing of human omics data. As part of its mission to enhance interoperability and to promote reliable data sharing, a detailed crosswalk analysis was conducted comparing the GHGA metadata model with four other domain-relevant standards and metadata models: EGA (Submission API and model draft), FAIR Genomes and ISA-tab. The analysis aimed at identifying semantic consensus fields to define datasets in the context of human omics by forward mapping (GHGA model to external models). Backward mapping (external models to GHGA) focused on spotting gaps in GHGA's semantic metadata representation. Forward mapping showed overall similar property coverage across models, aligning with MINSEQE. Backward mapping showed greater model heterogeneity. None of the identified information gaps spanned across all models. These findings highlight the detail and adaptability of the GHGA metadata model.
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000285251 650_2 $$2MeSH$$aHumans
000285251 650_2 $$2MeSH$$aMetadata
000285251 650_2 $$2MeSH$$aGenomics
000285251 650_2 $$2MeSH$$aGenome, Human
000285251 650_2 $$2MeSH$$aSemantics
000285251 650_2 $$2MeSH$$aGermany
000285251 650_2 $$2MeSH$$aEurope
000285251 650_2 $$2MeSH$$aInformation Dissemination
000285251 650_2 $$2MeSH$$aDatabases, Genetic
000285251 693__ $$0EXP:(DE-2719)PRECISE-20190321$$5EXP:(DE-2719)PRECISE-20190321$$ePlatform for Single Cell Genomics and Epigenomics at DZNE  University of Bonn$$x0
000285251 7001_ $$aIyappan, Anandhi$$b1
000285251 7001_ $$aParker, Simon$$b2
000285251 7001_ $$aSürün, Bilge$$b3
000285251 7001_ $$aTremper, Galina$$b4
000285251 7001_ $$00009-0001-5687-4298$$aMenges, Paul$$b5
000285251 7001_ $$aKuchenbecker, Léon$$b6
000285251 7001_ $$aKirli, Koray$$b7
000285251 7001_ $$0P:(DE-2719)2811660$$aSchultze, Joachim L$$b8
000285251 7001_ $$aNahnsen, Sven$$b9
000285251 7001_ $$0P:(DE-2719)9000845$$aUlas, Thomas$$b10$$eLast author$$udzne
000285251 7001_ $$aConsortium, GHGA$$b11$$eCollaboration Author
000285251 773__ $$0PERI:(DE-600)2775191-0$$a10.1038/s41597-026-06575-y$$gVol. 13, no. 1, p. 242$$n1$$p242$$tScientific data$$v13$$x2052-4436$$y2026
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