This project will continue to deliver the high quality NHGRI GWAS Catalog content. It will provide continuity of service and scalable data flow for the user community. It will provide new and improved infrastructure for users and curators. Specific tasks include: 1) Delivery of a new graphical user interface 2) Delivery of new curatorial infrastructure supporting improved QC processes 3) Provision of portable Biomolecular data integration 'Apps'based on the Ensembl APIs delivering summary data, and simple visualization of relevant datasets e.g. LD, population specific variation and regulatory variation. Data integration and visualization tools customized for the Catalog's user groups to ensure that the high quality data in the Catalog remains highly used by a diverse set of biomedical users, projects and resources. We will explore the inclusion of new data types such as next generation sequencing data in two pilots and the project will leverage the EBI's infrastructure investment to deliver scalable processes and dataflow to meet the challenge of changing technology and interpretation of epidemiology data in the whole genome context.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Biotechnology Resource Cooperative Agreements (U41)
Project #
3U41HG007823-01S1
Application #
8920277
Study Section
Ethical, Legal, Social Implications Review Committee (GNOM)
Program Officer
Wiley, Kenneth L
Project Start
2014-09-01
Project End
2017-08-31
Budget Start
2014-09-11
Budget End
2015-08-31
Support Year
1
Fiscal Year
2014
Total Cost
$120,025
Indirect Cost
$8,891
Name
European Molecular Biology Laboratory
Department
Type
DUNS #
321691735
City
Heidelberg
State
Country
Germany
Zip Code
69117
Morales, Joannella; Welter, Danielle; Bowler, Emily H et al. (2018) A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog. Genome Biol 19:21
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
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:
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
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