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: 9356607
• 负责人: Fiona Cunningham
• 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 2022-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9356607
• 关键词: Adopted; Automation; Award; Biomedical Research; Bipolar Disorder; Cardiovascular system; Catalogs; Communication; Communities; Community Developments; Complex; Complex Genetic Trait; Data; Data Reporting; Deposition; Development; Diabetes Mellitus; Disease; Drug Targeting; Eligibility Determination; Emerging Technologies; Ensure; Family member; Feedback; Funding; Future; Generations; Genetic Variation; Genotype; Guidelines; Health; Heart Diseases; Human; Human Genetics; Human Resources; Imagery; Journals; Knowledge; Lead; Literature; Malignant Neoplasms; Manuals; Metadata; Methods; Monitor; National Human Genome Research Institute; Paper; Pathway interactions; Procedures; Process; Publications; Publishing; Recruitment Activity; Research; Research Design; Research Infrastructure; Research Personnel; Resources; Route; Schizophrenia; Structure; Surveys; System; Technology; Variant; annotation system; data access; data acquisition; data integration; data resource; data visualization; database of Genotypes and Phenotypes; design; drug development; experimental study; genome wide association study; improved; infrastructure development; prevent; research and development; response; trait

The GWAS Catalog’s objective is to summarise GWAS data acquired from scientific publications, and to give the results structure, in order to summarize research findings to a broad scientific community. The Catalog is used by a growing user community of biologists and bioinformaticians worldwide. Over the next five years, the Catalog will continue to provide the most thoroughly curated resource for human variation data, by engaging journals in data recruitment, and by allowing co-submission/data transfer from other resources like dbGAP and the EGA. In order to underpin the Catalog’s relevance, a multi-stranded approach combining data generation, infrastructure development and liaison with the Catalog’s user community will be adopted. The first Aim for the next five years is for the Catalog to continue to deliver the Catalog as a community resource with high quality content. The curation system will evolve from manual curation, towards identification of data for automated extraction and review of submitted metadata, supporting author deposition, and the development of supporting QC processes. In Aim 2, the scope of the Catalog will be broadened to include new GWAS study designs, additional associated data, and emerging technologies. The Catalog’s eligibility criteria will ensure alignment with current research and the needs of the user community, but will be monitored and re-evaluated as needed. Building on previous pilots, the focus of Aim 2 will be on the inclusion of targeted array data and other genotyping methods, such as sequencing or imputation from family members. In Aim 3, the Catalog will be delivered as a scalable and sustainable resource for the future, which will allow for an extended scope of data. The development and promotion of standard formats for GWAS study design and results will be critical to ensure an efficient process for incorporating data into the Catalog. Authors will be encouraged to submit all SNP-trait associations, irrespective of p-value: this will vastly expand the depth of data available, and the utility of the Catalog. The manual curation system will be re-developed, with process automation to increase curator efficiency. Curation resources will be allocated in order to prioritise studies with the highest utility, therefore expediting the publication of these data in the Catalog. Finally, the Catalog’s resources, interfaces, and data access will be improved for all researchers by enhancing data representation, the search functionality, data visualization and integration with data from other relevant resources. User needs will be identified through surveys, and combined with feedback from other communication routes; existing data curation processes will then be modified to improve data representation, visualization, access and versatility. The continuation of the Catalog, as the main resource for data published on diseases with complex genetic traits, is of crucial importance for the biomedical research community, as a more efficient and effective way to better understand and to prevent, or cure, diseases like cardiovascular conditions, cancer and diabetes.

GWAS目录的目标是总结从科学出版物中获得的GWAS数据，并提供 成果结构，以便向广大科学界总结研究成果。将目录 越来越多的世界各地的生物学家和生物信息学家使用。在接下来的五年里， Catalog将继续为人类变异数据提供最全面的资源， 期刊的数据招募，并允许共同提交/数据传输从其他资源，如dbGAP和 的EGA。为了加强《目录》的相关性，采用了一种多层次的方法， 基础设施的发展和与目录用户社区的联系将被采用。第一个目标是 未来五年，目录将继续提供高质量的社区资源 内容策展系统将从手动策展发展到自动识别数据， 提取和审查提交的元数据，支持作者沉积，并制定支持 QC流程。在目标2中，目录的范围将扩大到包括新的GWAS研究设计， 其他相关数据和新兴技术。《目录》的资格标准将确保 目前的研究和用户群体的需要，但将根据需要进行监测和重新评价。 在之前试点的基础上，Aim 2的重点将是包含目标阵列数据和其他数据 基因分型方法，如测序或家庭成员的插补。在目标3中，目录将是 作为未来可扩展和可持续的资源提供，这将允许扩展数据范围。 GWAS研究设计和结果的标准格式的开发和推广将是至关重要的， 确保将数据合并到目录中的流程高效。作者将被鼓励提交所有 SNP-性状关联，不考虑p值：这将极大地扩展可用数据的深度， 的目录。人工策展系统将重新开发，流程自动化，增加策展人 效率将分配管理资源，以优先考虑效用最高的研究，因此， 加快在目录中公布这些数据。最后，Catalog的资源、接口和数据 通过增强数据表示、搜索功能、数据 可视化和与其他相关资源的数据集成。用户需求将通过 调查，并结合其他沟通途径的反馈;现有的数据管理流程将 然后进行修改，以改善数据表示，可视化，访问和多功能性。的延续 目录作为具有复杂遗传特征的疾病的主要数据来源， 重要性的生物医学研究界，作为一个更有效的方式，以更好地了解 以及预防或治愈心血管疾病、癌症和糖尿病等疾病。