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 Phenotype.
The metaregistry provides mappings between the Bioregistry and other registries. There are
3 mappings to external registries for
Providers are various services that resolve CURIEs to URLs. The example CURIE
gwascentral.phenotype:HGVPM623 is used to demonstrate the provides available for
gwascentral.phenotype. Generation of OLS and BioPortal URLs requires additional programmatic
logic beyond string formatting.
|GWAS Central Phenotype||