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.
| 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 |
| 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 |
