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The Genomics Landscape

Genome-Wide Association Studies Catalog

NHGRI Director Eric Green, M.D., Ph.D.
Eric Green
By Eric D. Green, M.D., Ph.D.
Director, National Human Genome Research Institute
May 5, 2015

The recently announced Precision Medicine Initiative is on the minds of many people these days. Numerous developments are unfolding as the planning phase proceeds, and it seems that everywhere that I go, scientists and non-scientists alike are eager to hear details. Accordingly, I have added a new 'spotlight' on the Precision Medicine Initiative within The Genomics Landscape-immediately before the section containing links of interest. Each month, this spotlight will feature news regarding the Precision Medicine Initiative, so stay on the lookout for these regular updates.

In this month's The Genomics Landscape, I discuss the NHGRI-EBI Genome-Wide Association Studies Catalog, which was started at NHGRI and is now housed at the European Bioinformatics Institute (EBI) in the U.K. See various details below, along with other information items that I hope will be of interest to you.

Specifically, May's The Genomics Landscape features stories about:

All the best,


Genome-Wide Association Studies Catalog

Genome-wide association studies (GWAS) have proven to be effective for identifying and understanding the genetics underlying human health and disease. The GWAS approach takes advantage of high-throughput DNA analysis methods to examine common genomic variants across human genomes; the goal is to find the variants associated with particular diseases or traits. Once detected, scientists can further study the variants (or variants nearby) to determine their role, if any, in causing disease or influencing the relevant trait.

NHGRI launched the Genome-Wide Association Studies (GWAS) Catalog in 2008 to capture information about published GWAS efforts and to create a curated, downloadable, and user-friendly data resource. The GWAS Catalog started as a series of tables that evolved into a database and the now-iconic chromosome-based graphic seen below. In 2010, NHGRI began a fruitful collaboration with the European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI), in the U.K., to improve the Catalog experience through additional curation, automated updating, and enhanced search capabilities. Very recently, the GWAS Catalog moved to the EMBL-EBI, but will continue to be curated jointly by EMBL-EBI and NHGRI staff.

GWAS Catalog graphic from May 5, 2015

To manage and maintain a high-quality data set, Catalog curators developed specific inclusion criteria. Studies must assay a minimum number of single-nucleotide polymorphisms (SNPs), a type of genomic variant, and include SNP-trait associations that achieve a certain level of statistical significance. The database is highly functional, with an interactive graphic and facile search functions. Users can search the Catalog based on different attributes (e.g.,author, gene, and SNP) and traits (e.g., cancer, diabetes, and obesity).

The real power of the GWAS Catalog lies in its utility. It is gratifying to see researchers incorporate the GWAS Catalog into other genomic resources and use the data to further research studies. GWAS Catalog data have been incorporated into a number of genome browsers, including dbSNP, UCSC, and Ensembl. It has also spawned the development of the Phenotype-Genotype Integrator (PheGenI), a resource developed with NCBI to link GWAS Catalog data with other NCBI databases. NHGRI's Encyclopedia of DNA Elements (ENCODE) Project utilized the GWAS Catalog to identify regulatory elements associated with human disease. 

GWAS CatalogThe GWAS Catalog continues to be a valuable resource for information regarding the vast number of findings coming out of GWAS. With the last data release on May 2, 2015, the GWAS Catalog contained 2,154 published studies and reported information about 15,333 SNPs. The GWAS Catalog graphic has become an iconic image that I see often used to represent the progress made in common disease-associated variant discovery. NHGRI and EBI are committed to maintaining this resource as it continues to grow and serve the research community. To access the GWAS Catalog, see Additional information is available at the NHGRI's GWAS web page:

More from the Genomics Landscape

NIH/NHGRI News of Interest

Whitescarver Steps Down as Director of NIH's Office of AIDS Research

New NIH Web Portal on Rigor and Reproducibility Launched

Photojournalist Bartlett Ends 35-Year NIH Career

Top Boards in the 2015 Unlocking Life's Code Pinterest Challenge

NIH Names Dr. Eliseo Pérez-Stable Director of the National Institute on Minority Health and Health Disparities

Using Genetics to Fight Disease - Interview about the Precision Medicine Initiative with Dr. Eric Green

Statement on NIH Funding of Research Using Gene-Editing Technologies in Human Embryos

Appointment of Adrienne A. Hallett as the Associate Director for Legislative Policy and Analysis, NIH

Service to America Medal Finalists - The Cancer Genome Atlas

Funding News

Use of Cloud Computing Services of Controlled-Access Data Subject to the NIH Genomic Data Sharing (GDS) Policy

Potential Delays to NIH Issuing Awards in May 2015

Publication of the Revised NIH Grants Policy Statement

Reporting Publications in the Research Performance Progress Report

NIH Policy on Application Compliance

Racial and Ethnic Categories and Definitions for NIH Diversity Programs and for Other Reporting Purposes
Genomics Research

NIH Study Finds Genetic Link for Rare Intestinal Cancer

How Modern Life Depletes Our Gut Microbes

New Method Increases Accuracy of Ovarian Cancer Prognosis and Diagnosis

Zebrafishing for a Weapon against Metastatic Cancer

Genome Advance of the Month

Iceland Study Provides Insights into Disease, Paves Way for Large-Scale Genomic Studies

Upcoming Webcasts/Webinars

The Cancer Genome Atlas' 4th Scientific Symposium - May  11 & 12, 2015

Seventy-Fourth Meeting: National Advisory Council for Human Genome Research - May 18, 2015

GTEx Symposium: All Things Considered - Biospecimens, 'Omics Data, and Ethical Issues - May 20 & 21, 2015

Funding Opportunities

Genome Sequencing Program Coordinating Center

Centers of Excellence in Ethical, Legal, and Social Implications Research

Undiagnosed Diseases Gene Function Research

Requests for Information

Optimizing Funding Policies and Other Strategies to Improve the Impact and Sustainability of Biomedical Research

Past editions of The Genomics Landscape can be accessed at Director's Page Archive

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Last Updated: May 5, 2015
Posted: August 4, 2008