Human Genome Variation database of Genotype-to-Phenotype information (RRID:SCR_007709)Copy Citation Copied
URL: https://www.gwascentral.org/
Proper Citation: Human Genome Variation database of Genotype-to-Phenotype information (RRID:SCR_007709)
Description: It re-directs to the ''''GWAS Central'''' resource, https://www.gwascentral.org/. Centralized compilation of summary level findings from genetic association studies, both large and small. They actively gather datasets from public domain projects, and encourage direct data submission from the community. HGVbaseG2P is built upon a basal layer of Markers that comprises all known SNPs and other variants from public databases such as dbSNP and the DBGV. Allele and genotype frequency data, plus genetic association significance findings, are added on top of the Marker data, and organized the same way that investigations are reported in typical journal manuscripts. Critically, no individual level genotypes or phenotypes are presented in HGVbaseG2P - only group level aggregated (summary level) data. The largest unit in a data submission is a Study, which can be thought of as being equivalent to one journal article. This may contain one or more Experiments, one or more Sample Panels of test subjects, and one or more Phenotypes. Sample Panels may be characterized in terms of various Phenotypes, and they also may be combined and/or split into Assayed Panels. The Assayed Panels are used as the basis for reporting allele/genotype frequencies (in `Genotype Experiments`) and/or genetic association findings (in ''''Analysis Experiments''''). Environmental factors are handled as part of the Sample Panel and Assayed Panel data structures.
Abbreviations: HGVbaseG2P, GWAS Central
Resource Type: data repository, storage service resource, database, service resource, data or information resource
Keywords: genotype, phenotype, genetic association study, allele, genotype frequency data, genetic association
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