Welcome to the Genome Toolbox! I am glad you navigated to the blog and hope you find the contents useful and insightful for your genomic needs. If you find any of the entries particularly helpful, be sure to click the +1 button on the bottom of the post and share with your colleagues. Your input is encouraged, so if you have comments or are aware of more efficient tools not included in a post, I would love to hear from you. Enjoy your time browsing through the Toolbox.

Friday, May 16, 2014

Is there a GWAS on that?

A great online resource to find whether a genome-wide association study (GWAS) has been published on a certain trait or disease is the National Human Genome Research Institute (NHGRI) webpage where they maintain a curated catalog of published GWAS.  Here trained curators are constantly scanning PubMed publications and other genomic resources looking for association studies linking a genomic position (usually a tagging SNP) to a disease trait of interest.  Details listed include study size, population, locus, risk allele, odds ratio, p-value, and other pertinent statistics.  Recently, the NHGRI in collaboration with the European Bioinformatics Institute (EBI) released an interactive version of the GWAS catalog called the GWAS Diagram Browser.  This provides a great way to visualize and filter many of the genome-wide significant findings from genome-wide associations studies.  Highlights include filtering by disease, time series views, and some useful downloads.

Another noteworthy resource is the HuGE Navigator GWAS Interagator.  This is a search tool similar to the NHGRI GWAS catalog, but more focused on a search terms.  Handy links are provided to other resources.  Of particular interest are links to visualize the variants in the UCSC Browser.

I am sure other GWAS resources exist as well, but these were the two main ones that first came to mind for me.  If you know other great GWAS resources capable of linking a genomic marker with a disease, please share in the comments below.

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