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

GWAS目录的目标是总结从科学出版物中获得的Gwas数据，并给出 结果结构，以便向广泛的科学界总结研究结果。目录是 被世界各地越来越多的生物学家和生物信息学家的用户社区使用。在未来的五年里， CATALOG将继续为人类变异数据提供最彻底的精选资源，通过参与 数据招募中的期刊，并允许从其他资源(如数据库和数据库)联合提交/数据传输 特种部队。为了加强《目录》的相关性，一种结合了数据生成、 将采用基础设施开发和与目录用户社区的联系。的第一个目标是 未来五年，目录将继续作为高质量的社区资源提供 内容。管理系统将从人工管理演变为自动识别数据 提炼和审查提交的元数据，支持作者提交，以及开发支持 QC流程。在目标2中，目录的范围将扩大，以包括新的全球地球科学院研究设计， 其他相关数据和新兴技术。目录的资格标准将确保对齐 根据目前的研究和用户社区的需求，但将根据需要进行监测和重新评估。 在之前试点的基础上，AIM 2的重点将是包括目标阵列数据和其他 基因分型方法，例如来自家庭成员的测序或归罪。在AIM 3中，目录将是 作为面向未来的可扩展和可持续资源提供，这将允许扩大数据范围。 制定和推广全球气候变化系统研究设计和结果的标准格式将对 确保高效地将数据合并到目录中。将鼓励作者提交所有 SNP-性状关联，而不考虑p值：这将极大地扩展可用数据的深度和效用 目录中的。将重新开发人工管理系统，实现流程自动化，以增加管理人员 效率。将分配管理资源，以便以最高的效用优先进行研究，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 将通过增强数据表示、搜索功能、数据 可视化并与来自其他相关资源的数据集成。将通过以下方式确定用户需求 调查，并结合来自其他通信途径的反馈；现有的数据管理进程将 然后对其进行修改，以提高数据的表示、可视化、访问性和通用性。的延续。 目录作为发表具有复杂遗传特征的疾病数据的主要来源，具有至关重要的作用 对生物医学研究界的重要性，作为更有效和更有效的方式来更好地了解 并预防或治愈心血管疾病、癌症和糖尿病等疾病。

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.