TY  - JOUR
AU  - Mauer, Karoline
AU  - Iyappan, Anandhi
AU  - Parker, Simon
AU  - Sürün, Bilge
AU  - Tremper, Galina
AU  - Menges, Paul
AU  - Kuchenbecker, Léon
AU  - Kirli, Koray
AU  - Schultze, Joachim L
AU  - Nahnsen, Sven
AU  - Ulas, Thomas
TI  - Semantic alignment of the German Human Genome-Phenome Archive metadata model in Europe's genomics field.
JO  - Scientific data
VL  - 13
IS  - 1
SN  - 2052-4436
CY  - London
PB  - Nature Publ. Group
M1  - DZNE-2026-00193
SP  - 242
PY  - 2026
AB  - Legal 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.
KW  - Humans
KW  - Metadata
KW  - Genomics
KW  - Genome, Human
KW  - Semantics
KW  - Germany
KW  - Europe
KW  - Information Dissemination
KW  - Databases, Genetic
LB  - PUB:(DE-HGF)16
C6  - pmid:41673046
C2  - pmc:PMC12905157
DO  - DOI:10.1038/s41597-026-06575-y
UR  - https://pub.dzne.de/record/285251
ER  -