A Catalog of Published Genome-Wide Association Studies

We desperately need a database of genome-wide association studies and now here it is (organized by Genome.gov).

The genome-wide association study (GWAS) publications listed here include only those attempting to assay at least 100,000 single nucleotide polymorphisms (SNPs) in the initial stage. Publications are organized from most to least recent date of publication, indexing from online publication if available. Studies focusing only on candidate genes are excluded from this catalog. Studies are identified through weekly PubMed literature searches, daily NIH-distributed compilations of news and media reports, and occasional comparisons with an existing database of GWAS literature (HuGE Navigator).

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What is a genome-wide association study?

In genetic epidemiology, a genome-wide association study (GWA study, or GWAS) – also known as whole genome association study (WGA study) – is an examination of genetic variation across a given genome, designed to identify genetic associations with observable traits. In human studies, this might include traits such as blood pressure or weight, or why some people get a disease or condition.

These studies normally require two groups of participants: people with the disease (cases) and similar people without (controls). After genotyping each participant, the set of markers, such as SNPs, are scanned into computers. Then bioinformatics is applied to survey participants’ genomes for markers of genetic variation.

If genetic variations are more frequent in people with the disease, the variations are said to be “associated” with the disease. The associated genetic variations are then considered as pointers to the region of the human genome where the disease-causing problem is likely to reside.