The GWAS Catalog has been successfully delivered as an ongoing collaboration between EMBL-EBI and NHGRI, which will continue as part of the next five-year plan. Fiona Cunningham joins existing PIs Helen Parkinson and Paul Flicek and together they will deliver the next phase of the Catalog?s development. The Catalog?s dissemination will take place via the graphical user interface, the download function, the API function, access to the Catalog?s codebase, tracker, publications and the outreach activities performed by the Catalog team. The outreach activities will continue to serve the existing user community and aim to grow the user base by targeting specific user groups via use of social media, interactions with data generators, at scientific meetings with the genetics and via the informatics user communities and publishers. New engagement with tools developers and publishers to promote author deposition using community approved standard formats will support the Resource Production and Resource Informatics activities which will implement these tools. Training for the Catalog?s users will be provided via an online training course hosted on the EMBL-EBI?s train online platform. Community workshops will also be offered on request and workshop applications will be submitted to major conferences in conjunction with Ensembl to maximise the ability to access users. The ?train the trainer? model will be used to identify individuals who will act as trainers for the Catalog and we will make all training materials and Catalog processes freely available to them. EMBL-EBI?s Industry Program and Open Targets Collaboration will be leveraged to access international pharmaceutical users to ensure that the training has the greatest possible reach. The Catalog?s Scientific Advisory Board (SAB) will represent the user community and provide a forum for the PIs and EMBL-EBI/NHGRI collaborators to discuss progress in a productive and invested manner. The SAB will meet yearly, prior to the ASHG meeting, and will provide advice on emerging technologies and challenges in the GWAS domain, to support the Catalog in including the latest findings on complex diseases and fundamental knowledge used by research and drug development communities for the benefit of human health. The SAB will also play a role in the Catalog?s community engagement strategy.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Biotechnology Resource Cooperative Agreements (U41)
Project #
5U41HG007823-05
Application #
9565631
Study Section
Special Emphasis Panel (ZHG1)
Project Start
Project End
Budget Start
2018-07-01
Budget End
2019-06-30
Support Year
5
Fiscal Year
2018
Total Cost
Indirect Cost
Name
European Molecular Biology Laboratory
Department
Type
DUNS #
321691735
City
Heidelberg
State
Country
Germany
Zip Code
69117
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Newman, Victoria; Moore, Benjamin; Sparrow, Helen et al. (2018) The Ensembl Genome Browser: Strategies for Accessing Eukaryotic Genome Data. Methods Mol Biol 1757:115-139
MacArthur, Jacqueline; Bowler, Emily; Cerezo, Maria et al. (2017) The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Res 45:D896-D901
Ruffier, Magali; Kähäri, Andreas; Komorowska, Monika et al. (2017) Ensembl core software resources: storage and programmatic access for DNA sequence and genome annotation. Database (Oxford) 2017:
Yates, Andrew; Akanni, Wasiu; Amode, M Ridwan et al. (2016) Ensembl 2016. Nucleic Acids Res 44:D710-6
Cunningham, Fiona; Moore, Barry; Ruiz-Schultz, Nicole et al. (2015) Improving the Sequence Ontology terminology for genomic variant annotation. J Biomed Semantics 6:32
Welter, Danielle; MacArthur, Jacqueline; Morales, Joannella et al. (2014) The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res 42:D1001-6