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A catalog of published results

NHGRI logo

National Human Genome
Research Institute

Here you can access a catalog of published Genome-Wide Association Studies (GWAS) that has been compiled by the National Human Genome Research Institute (NHGRI)

This feature allows you gain a quick overview of where research on common traits has been showing associations with single nucleotide genetic variations (SNPs). Simply select a disease or trait from the list below and a feature track with the corresponding SNPs from the catalog will show up in your Genome Browser.

Health Watch vs. the GWAS Catalog
Many of the associations in the GWAS catalog compiled in August 2009 are included in our Health Watch feature. There are also numerous other associations that our scientists have not included, as they do not fulfill the criteria we set for inclusion in the Health Watch.

The GWAS catalog is presented here simply as it appears on the NHGRI web site and has not been reviewed by deCODE’s scientists. The link to the GWAS catalog is provided primarily for educational purposes – for the curious George who wants to look at genome-wide association study results in the context of other information that we provide in our Genome Browser.

Differences in Criteria
Please note that there are vast differences in the criteria for selecting SNPs and the methods for presenting their associations, between our Health Watch category and the NHGRI catalog. For instance, the statistical significance threshold for inclusion in the NHGRI catalog is much less stringent than we use in the Health Watch which is based on a wider assessment of the evidence by our scientific team.

> List of conditions and their SNP associations

Reseach Catalog

Another important issue concerns the reporting of risk alleles, which are not always clearly identified in the scientific articles, but are essential to have correctly assigned for a meaningful risk estimate. Likewise, in cases where the reported SNPs are not present on the chip platform that we use, our scientists carefully select surrogate SNPs and the corresponding risk alleles.

Finally, we do not report the allelic odds-ratios, as the GWAS catalog does, but rather the genotype risk relative to the population mean. This simplifies the calculations of the overall relative genetic risk from multiple SNPs, which makes the risk easier to interpret for the individual user.

For details on the NHGRI GWAS catalog and their methods:

> Visit the NHGRI Website


Instructions: Above you see an overview of the genome (designed by Darryl Leja and Teri Manolio) with color bullets that represent locations of SNPs associated with the various diseases and traits in the catalog. Below, you see the same traits listed in a tabular form and how many SNPs have been associated with each trait. By clicking on the trait, you can launch the Genome Browser and see the corresponding SNPs from the NHGRI catalog in the context of the genome assembly and other feature tracks.

Hover over each SNP in the Genome Browser and the tooltip will show you more scientific details from the catalog or double click on the SNP to drill closer into its genomic location. A right-click on the SNP takes you to the publication. From the track list in the Genome Browser, you can also select other tracks from the NHGRI catalog or alternatively click the links below. Finally, within the browser, you can search for SNPs based on the content in the catalog. For instance, try typing in “nhgri asthma” in the search field (without the quotation marks) or type “nhgri scott” to find associations where the first author is Scott.

List of conditions (with number of associated SNPs)