GWAS Catalog

GWAS目录

• 批准号: 8920277
• 负责人: Helen Elizabeth Parkinson
• 金额: $ 12万
• 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 2017-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8920277
• 关键词: Adopted; Cataloging; Catalogs; Communities; Complex; Data; Data Quality; Data Set; Deposition; Development; Eligibility Determination; Ensure; Epidemiology; Generations; Genes; Genome; Genomics; Imagery; Investments; Literature; Meta-Analysis; Methodology; National Human Genome Research Institute; Paper; Pilot Projects; Population; Principal Investigator; Process; Publishing; Quality Control; Research; Research Infrastructure; Resources; Role; Route; Sampling; Services; Staging; System; Technology; Testing; Variant; Work; base; data integration; data management; density; exome sequencing; experience; genome sequencing; genome wide association study; graphical user interface; improved; meetings; new technology; next generation sequencing; tool; trait

DESCRIPTION (provided by applicant): 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.

描述（由申请人提供）：该项目将继续提供高质量的 NHGRI GWAS 目录内容。它将为用户社区提供连续性的服务和可扩展的数据流。它将为用户和策展人提供新的和改进的基础设施。具体任务包括： 1) 交付新的图形用户界面 2) 交付新的策展基础设施，支持改进的质量控制流程 3) 提供基于 Ensembl API 的便携式生物分子数据集成“应用程序”，提供汇总数据以及相关数据集的简单可视化，例如LD，群体特异性变异和监管变异。为目录的用户组定制的数据集成和可视化工具，以确保目录中的高质量数据仍然被各种生物医学用户、项目和资源高度使用。 我们将探索在两个试点中纳入新的数据类型，例如下一代测序数据，该项目将利用 EBI 的基础设施投资来提供可扩展的流程和数据流，以应对不断变化的技术和全基因组背景下流行病学数据解释的挑战。