Establishing the GWAS Catalog as a resource for large-scale association studies

建立 GWAS 目录作为大规模关联研究的资源

• 批准号: 10218234
• 负责人: Helen Elizabeth Parkinson
• 金额: $ 81.86万
• 依托单位: EUROPEAN MOLECULAR BIOLOGY LABORATORY
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-09-01 至 2022-09-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10218234
• 关键词: Catalogs; Collaborations; Communities; Community Developments; Complex; Data; Deposition; Development; Disease; Documentation; Educational workshop; Emerging Technologies; Ensure; Equilibrium; Five-Year Plans; Gender; Genetic; Health; Human; Individual; Industry; Informatics; International; Knowledge; Leadership; Link; Maintenance; Modeling; National Human Genome Research Institute; Parkinson Disease; Pharmacologic Substance; Phase; Play; Process; Production; Publications; Resource Informatics; Resources; Role; Route; Trainers Training; Training; base; community engagement; data integration; drug development; genome wide association study; genomic data; graphical user interface; meetings; online delivery; outreach; programs; research and development; social media; symposium; tool

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.

GWAS目录已成功交付，是EMBL-EBI和