Table 1.
Glossary of terms, abbreviations and acronyms.
| Term | Definition | Website |
|---|---|---|
| 1 + MG | European ‘1 + Million Genomes’ Initiative | https://digital-strategy.ec.europa.eu/en/policies/1-million-genomes |
| ART-DECOR® | Advanced Requirement Tooling Data Elements, Codes, OIDs and Rules | https://art-decor.org |
| B1MG | Beyond 1 Million Genomes project | https://b1mg-project.eu |
| BBMRI | Biobanking and Biomolecular Resources Research Infrastructure | https://www.bbmri.nl |
| CDE | Common Data Elements | https://eu-rd-platform.jrc.ec.europa.eu/set-of-common-data-elements_en |
| CINECA | Common Infrastructure for National Cohorts in Europe, Canada, and Africa | https://www.cineca-project.eu |
| DCDE | Domain specific Common Data Elements | https://erica-rd.eu/event/domain-specific-common-data-elements-dcdes-curation |
| EGA | European Genome-phenome Archive | https://ega-archive.org |
| EJP-RD | European Joint Programme for Rare Disease | https://www.ejprarediseases.org |
| ELIXIR | European life-sciences Infrastructure for biological Information | https://elixir-europe.org |
| ERICA | European Rare Disease Research Coordination and Support Action consortium | https://erica-rd.eu |
| EuroGentest | EuroGentest: harmonizing genetic testing across Europe | http://www.eurogentest.org |
| FAIRplus | FAIRplus project | https://fairplus-project.eu |
| FDP | FAIR Data Point | https://www.fairdatapoint.org |
| FHIR | Fast Healthcare Interoperability Resources | https://www.hl7.org/fhir |
| GA4GH | Global Alliance for Genomics and Health | https://www.ga4gh.org |
| Health-RI | Health Research Infrastructure | https://www.health-ri.nl |
| HL7 | Health Level Seven International | https://hl7.org |
| ICGC | International Cancer Genome Consortium | https://dcc.icgc.org |
| ISA-TAB | Investigation Study Assay (ISA) tab-delimited (TAB) format | https://isa-tools.org |
| JRC | Joint Research Centre | https://ec.europa.eu/jrc |
| MIABIS | Minimum Information About BIobank data Sharing | https://github.com/BBMRI-ERIC/miabis |
| RD3 | Rare Disease Data about Data | https://solve-rd.molgeniscloud.org |
| SolveRD | Solving the unsolved Rare Diseases | https://solve-rd.eu |
| TCGA | The Cancer Genome Atlas | http://cancergenome.nih.gov |
| VKGL | Vereniging Klinisch Genetische Laboratoriumdiagnostiek | https://www.vkgl.nl |
| VKGN | Vereniging Klinische Genetica Nederland | https://www.vkgn.org |
| X-omics | The Netherlands X-omics Initiative (X-omics, pronounce as CROSS-omics) | https://www.x-omics.nl |