GWAS Central (previously the Human Genome Variation database of Genotype-to-Phenotype information) is a database of summary level findings from genetic association studies, both large and small. It gathers datasets from public domain projects, and accepts direct data submission. It is based upon Marker information encompassing SNP and variant information from public databases, to which allele and genotype frequency data, and genetic association findings are additionally added. A Study (most generic level) contains one or more Experiments, one or more Sample Panels of test subjects, and one or more Phenotypes. This collection references a GWAS Central Study.
gwascentral.study
Local identifiers in GWAS Central Study should match this
regular expression:
^HGVST\d+$
Compact URIs (CURIEs) constructed from GWAS Central Study should match
this regular expression:
^gwascentral\.study:HGVST\d+$
The metaregistry provides mappings between the Bioregistry and other registries. There are 4 mappings to external registries for this resource with 2 unique external prefixes.
Registry Name | Registry Metaprefix | External Prefix | Curate |
---|---|---|---|
BioContext | biocontext |
GWASCENTRAL.STUDY
|
|
Identifiers.org | miriam |
gwascentral.study
|
|
N2T | n2t |
gwascentral.study
|
|
Prefix Commons | prefixcommons |
hgvbase
|
A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).
The local unique identifier HGVST1828
is used to demonstrate the providers
available for GWAS Central Study. A guide for curating additional providers can be found
here.
Name | Metaprefix | URI |
---|---|---|
GWAS Central Study | gwascentral.study |
https://www.gwascentral.org/study/HGVST1828 |
Bioregistry | bioregistry |
https://bioregistry.io/gwascentral.study:HGVST1828 |
Identifiers.org | miriam |
https://identifiers.org/gwascentral.study:HGVST1828 |
Name-to-Thing | n2t |
https://n2t.net/gwascentral.study:HGVST1828 |
Additional providers curated in the Bioregistry are listed here. These are typically inherited from Identifiers.org or Prefix Commons, and need extra curation.
Code | Name | URL |
---|---|---|
bio2rdf |
Bio2RDF | http://bio2rdf.org/hgvbase:HGVST1828 |