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 | |
B1MG | Beyond 1 Million Genomes project | |
BBMRI | Biobanking and Biomolecular Resources Research Infrastructure | |
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 | |
DCDE | Domain specific Common Data Elements | https://erica-rd.eu/event/domain-specific-common-data-elements-dcdes-curation |
EGA | European Genome-phenome Archive | |
EJP-RD | European Joint Programme for Rare Disease | |
ELIXIR | European life-sciences Infrastructure for biological Information | |
ERICA | European Rare Disease Research Coordination and Support Action consortium | |
EuroGentest | EuroGentest: harmonizing genetic testing across Europe | |
FAIRplus | FAIRplus project | |
FDP | FAIR Data Point | |
FHIR | Fast Healthcare Interoperability Resources | |
GA4GH | Global Alliance for Genomics and Health | |
Health-RI | Health Research Infrastructure | |
HL7 | Health Level Seven International | |
ICGC | International Cancer Genome Consortium | |
ISA-TAB | Investigation Study Assay (ISA) tab-delimited (TAB) format | |
JRC | Joint Research Centre | |
MIABIS | Minimum Information About BIobank data Sharing | |
RD3 | Rare Disease Data about Data | |
SolveRD | Solving the unsolved Rare Diseases | |
TCGA | The Cancer Genome Atlas | |
VKGL | Vereniging Klinisch Genetische Laboratoriumdiagnostiek | |
VKGN | Vereniging Klinische Genetica Nederland | |
X-omics | The Netherlands X-omics Initiative (X-omics, pronounce as CROSS-omics) |
