Strengthening community knowledge bases for genetic association studies and polygenic scores, the GWAS and PGS Catalogs

加强遗传关联研究和多基因评分、GWAS 和 PGS 目录的社区知识库

• 批准号: 10709586
• 负责人: Michael Inouye
• 金额: $ 114万
• 依托单位: EUROPEAN MOLECULAR BIOLOGY LABORATORY
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-09-20 至 2027-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10709586
• 关键词: Address; Architecture; Area; Atlases; Automation; Biomedical Research; Border Crossings; Cardiovascular Diseases; Catalogs; Charities; Collaborations; Communities; Complex; Consent; Data; Data Analyses; Data Element; Data Reporting; Data Set; Deposition; Diabetes Mellitus; Disease; Ensure; Equity; Ethics; Evaluation; Feedback; Future; Genes; Genetic Variation; Genomics; Health; Human; Infrastructure; International; Journals; Knowledge; Legal; Link; Literature; Malignant Neoplasms; Mental disorders; Metadata; Methods; Mission; Modeling; Online Systems; Ontology; Performance; Persons; Pharmacologic Substance; Population; Prevention; Privacy; Process; Quality Control; Randomized; Relative Risks; Reporting; Reproducibility; Research; Research Personnel; Resource Development; Resources; Scoring Method; Source; Standardization; Structure; Surveys; Techniques; Time; Training; Translating; Translations; Update; Variant; Visualization; Work; biobank; cloud based; computational platform; data access; data acquisition; data exploration; data ingestion; data integration; data quality; database of Genotypes and Phenotypes; design; distributed data; diverse data; exome; experience; feeding; genetic association; genome analysis; genome resource; genome sequencing; genome wide association study; genomic variation; graphical user interface; improved; knowledge base; large datasets; machine learning algorithm; novel; portability; resilience; statistics; text searching; tool; trait; web site; whole genome; working group

PROJECT SUMMARY The Genome Wide Association Studies (GWAS) Catalog’s mission is to provide a comprehensive and complete resource of GWAS knowledge and to integrate the Catalog with appropriate resources, including those that translate GWAS knowledge to improve human health and improve our understanding of human variation in the context of complex disease and related traits. Over the next five years we will continue to provide the most complete, curated, standardised and FAIR resource of GWAS data for an international user community of biomedical researchers from academic and pharmaceutical companies. We will extend our resource activities to closely link the GWAS Catalog with a major cognate application, that of Polygenic Scores (PGS) and the Polygenic Score Catalog. We will continue to work with journals, consortia, charities and other funders to ensure that data is accessible, federating elements of the data where it cannot be shared due to ethical constraints. We will improve the data ingest, curation, visualisation and API components to ensure we scale to increasing data and user volumes. Automation of curation, user deposition and literature extraction will be automated and enhanced resulting in quality controlled, harmonised and FAIR knowledge for users. By integrating data flows with PGS and Mendelian Randomisation (MR) resources, we will make the data and necessary meta data readily accessible for analysis for a wider group of users and reduce redundancy in data flow and acquisition across resources, consolidating our resource as the world’s primary GWAS knowledge base. In Aim 1, we will deliver novel processes and support QC for author deposition of significant SNP-Trait associations enabling scaling and leveraging existing author relationships. Our work to acquire the community’s invaluable GWAS summary statistics will continue, with a target of 75% of all studies linked to summary statistics, emphasising non-European ancestries and under-represented disease areas. Aim 2 provides improvements for community uses of summary statistics by integrating data flows with PGS and Mendelian Randomisation (MR) resources. Aim 3 addresses performance improvements for the infrastructure ensuring it is portable and modular and enabling sharing of QC and harmonisation processes. Aim 4 improves our graphical user interfaces, visualisation and data exploration tools and APIs, ensuring they scale for unprecedented data volumes and are appropriate for evolving user needs. Together these aims will serve our growing user community to both enable and enhance the aetiological understanding, prevention and treatment of cardiovascular disease, diabetes, cancers, psychiatric disorders and other complex diseases.

项目总结