The GWAS catalog is a free online database that compiles data of

genome-wide association studies In genomics, a genome-wide association study (GWA study, or GWAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on assoc ...

(GWAS), summarizing unstructured data from different literature sources into accessible high quality data. It was created by the

National Human Genome Research Institute The National Human Genome Research Institute (NHGRI) is an institute of the National Institutes of Health, located in Bethesda, Maryland. NHGRI began as the Office of Human Genome Research in The Office of the Director in 1988. This Office transi ...

(NHGRI) in 2008 and have become a collaborative project between the NHGRI and the

European Bioinformatics Institute The European Bioinformatics Institute (EMBL-EBI) is an intergovernmental organization (IGO) which, as part of the European Molecular Biology Laboratory (EMBL) family, focuses on research and services in bioinformatics. It is located on the Wel ...

(EBI) since 2010. As of September 2018, it has included 71,673 SNP–trait associations in 3,567 publications. A GWAS identifies genetic loci associated with common traits and disease through the analysis of categorized variants across the genome and the catalog provides information from all published

GWAS GWAS may refer to: *Genome-wide association study, study of mutations' correlations with disease or other phenotypic expressions *''gwas'', a Welsh term for a valet * Great Western Ambulance Service, the ambulance service serving Somerset, Gloucest ...

results that meet its criteria. The catalog contains publication information, study groups information (origin, size) and SNP-disease association information (including SNP identifier,

P-value In null-hypothesis significance testing, the ''p''-value is the probability of obtaining test results at least as extreme as the result actually observed, under the assumption that the null hypothesis is correct. A very small ''p''-value means ...

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

and risk

allele An allele is a variant of the sequence of nucleotides at a particular location, or Locus (genetics), locus, on a DNA molecule. Alleles can differ at a single position through Single-nucleotide polymorphism, single nucleotide polymorphisms (SNP), ...

). Over the years, the GWAS catalog has enhanced its data release frequency by adding features such as graphical user interface, ontology-supported search functionality and a curation interface. The GWAS catalog is widely used to identify causal variants and understand disease mechanisms by biologists, bioinformaticians and other researchers. Some GWAS identified common genomic loci that are associated diseases include:

cardiovascular disease Cardiovascular disease (CVD) is any disease involving the heart or blood vessels. CVDs constitute a class of diseases that includes: coronary artery diseases (e.g. angina, heart attack), heart failure, hypertensive heart disease, rheumati ...

inflammatory bowel disease Inflammatory bowel disease (IBD) is a group of inflammatory conditions of the colon and small intestine, with Crohn's disease and ulcerative colitis (UC) being the principal types. Crohn's disease affects the small intestine and large intestine ...

type 2 diabetes Type 2 diabetes (T2D), formerly known as adult-onset diabetes, is a form of diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. Common symptoms include increased thirst, frequent ...

and

breast cancer Breast cancer is a cancer that develops from breast tissue. Signs of breast cancer may include a Breast lump, lump in the breast, a change in breast shape, dimpling of the skin, Milk-rejection sign, milk rejection, fluid coming from the nipp ...

Accessibility of data

The public can gain access to the GWAS Catalog’ s data in three ways: # The NHGRI web interface’s search: provide information on traits and study publication and an tab-delimited file that is available for download. # Interactive interface: provide a visualization of all SNP-associated traits in the GWAS catalog as well as SNPs’ positions on human chromosomes. And all SNPs are associated with a particular trait are displayed with web links to related literature from different databases. #

Ensembl Ensembl genome database project is a scientific project at the European Bioinformatics Institute, which provides a centralized resource for geneticists, molecular biologists and other researchers studying the genomes of our own species and other v ...

, the

UCSC Genome Browser The UCSC Genome Browser is an online and downloadable genome browser hosted by the University of California, Santa Cruz (UCSC). It is an interactive website offering access to genome sequence data from a variety of vertebrate and invertebrate spec ...

, the PheGenI and other data portals provide access to the GWAS catalog through providing web links.

Applications

Some current applications of the GWAS Catalog include the use of studies on the genetics of human diseases and the

heritability Heritability is a statistic used in the fields of Animal husbandry, breeding and genetics that estimates the degree of ''variation'' in a phenotypic trait in a population that is due to genetic variation between individuals in that population. T ...

of human traits. The GWAS catalog data can also be used as a pool of markers for SNP studies.

References

External links

* Databases in the United Kingdom Genetics databases Genetics in the United Kingdom Internet properties established in 2008 Online databases Population genetics organizations South Cambridgeshire District {{biodatabase-stub