If you are filtering a set of variants to look for those potentially involved in disease, your first stop will probably be databases of phenotype associations, like ClinVar. There is also a lot of valuable information on variant-disease associations in the literature, which may not yet have been extracted into curated databases. It can be hard to compile lists of citations for a large set of variants, but Ensembl VEP is here to help!
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Ten years of the GWAS Catalog – Past, present and future
This guest blog is a joint contribution by Laura Harris (GWAS Catalog) and Astrid Gall (Ensembl Outreach). You can contact our colleagues of the GWAS Catalog at gwas-info[at]ebi.ac.uk.
This year marks a special anniversary for the GWAS Catalog, as we have reached ten years since our launch in 2008. The GWAS Catalog is a widely used publicly available resource of all published human genome wide association studies (GWAS) and association results. Each GWAS study contains a wealth of information which is effectively inaccessible to researchers and clinicians without them spending a lot of time undertaking regular systematic reviews of the literature. This is where we can help you!