Genome-wide association studies (GWASs) have identified numerous single nucleotide polymorphisms (SNPs) that are associated with development of multifactorial diseases, such as coronary artery disease, rheumatoid arthritis, type 2 diabetes mellitus and cancers.
A comprehensive resource that curates knowledge about the impact of genetic variation on drug response for clinicians and researchers. PharmGKB has refocused on curating knowledge rather than housing primary genotype and phenotype data, and now, captures more complex relationships between genes, variants, drugs, diseases and pathways.
Integrates data sets from a range of experiments and model organisms alongside tools for exploring them. The current version brings together information covering genes, proteins, orthologues, interactions, gene expression, pathways, ontologies, diseases, genome-wide association studies and single nucleotide polymorphisms. Although the emphasis is on human data, key data sets from mouse and rat are included.
An online repository of data relating to genetic association studies in the field of epilepsy. It summarises the results of both published and unpublished studies, and is intended as a tool for researchers in the field to keep abreast of recent studies, providing a "bird's eye view" of this research area.
Allows users to share genetic variant data sets collected from large-scale population-sequencing projects, clinical diagnostic settings, and variant curation efforts. Beacon Network permits users to choose from a predetermined set of conditions that restrict potential data use on the basis of the consent of individuals represented in the data. It overcomes the inefficiency and expense experienced when data generators must transfer whole copies of their data sets into a single, centralized repository.
Assists researchers to query UK Biobank results in an easy way without the need to incur in high computational costs. GeneAtlas contains significant and non-significant associations. It provides an unbiased view of phenotypegenotype associations across a large number of traits. This database can assist researchers working on complex traits genetics. It permits users to gain further insight into the genetic architecture of complex traits.
Extracts and aligns associations for user-specified variants and proxies across a large curated database. PhenoScanner extends current catalogues of genetic data by including all available results as opposed to filtering on strength of association. This database aligns genotype-phenotype associations across traits and proxies, providing the user with an easily interpretable formatted output file. PhenoScanner will make cross-referencing genetic variants with many phenotypes faster and more efficient.
Provides genotypic and phenotypic information from almost 50 000 individuals who were sequenced for 30 genes associated with hereditary cancer. Color Data is a cloud-based database that focuses on genotypic–phenotypic correlations in hereditary cancer in an aggregated population and includes information of genes, variants and classifications, as well as personal and family history of cancer.