African Genomics Data Hub Biomedical Knowledgebase

非洲基因组数据中心生物医学知识库

• 批准号: 10560722
• 负责人: KAIS GHEDIRA
• 金额: $ 64.06万
• 依托单位: UNIVERSITY OF CAPE TOWN
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-01 至 2028-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10560722
• 关键词: Address; Adherence; Africa; African; African ancestry; Area; Attention; Automobile Driving; Basic Science; Case Report Form; Catalogs; ClinVar; Clinical; Collection; Communities; Complement; Consent; Data; Data Collection; Data Reporting; Data Set; Databases; Development; Ensure; FAIR principles; Future; Genbank; Gene Frequency; Genetic; Genetic Variation; Genome; Genomic medicine; Genomics; Genotype; Geography; Goals; Graph; Health; Human Genetics; International; Linguistics; Literature; Metadata; Multiomic Data; Ontology; Output; Pathogenicity; Persons; Phenotype; Population; Production; Proteomics; Research; Research Personnel; Resources; Scientist; Services; Specific qualifier value; Standardization; Statutes and Laws; Training; Translations; Trust; United Kingdom; Variant; Work; data hub; data portal; data quality; data standards; data submission; database of Genotypes and Phenotypes; dbSNP; experience; genome resource; genome wide association study; genomic data; genomic variation; improved; indexing; knowledgebase; multiple omics; pan-genome; phenotypic data; public database; public repository; rapid growth; repository; tool; transcriptomics; web portal

African Genomics Data Hub Biomedical Knowledgebase Project Summary African genomic data has the potential to benefit researchers and clinicians world-wide, given the African origin of global populations, and the current wide geographic spread of people with African ancestry. However, African genomic data are sparse and often kept in silos or under controlled access, usually not curated at an adequate level of granularity. The African Genomics Data Hub (AGDH) Biomedical Knowledgebase aims to address these issues by providing a centralized resource of curated genomic data for populations of African ancestry to increase findability and accessibility. More specifically, the knowlegebase will serve as a data submission centre to promote the submission of multi omics and genetic data to public repositories, ensuring adherence to international standards and data quality. Existing data in public repositories and the literature will be further curated and accessible via web portals focussed on African-relevant information. Aggregated genomic data from populations of African ancestry that are not available in gnoMAD or other databases for valid reasons, will be served with appropriate access levels in the African Genome Variation Database hosted by the AGDH. Datasets will be indexed and searchable via a catalogue to increase findability. Additionally, tools and resources relevant to the processing and analysis of African data (African pangenome and reference graph, African reference panel and imputation service) that complement and fill gaps in international efforts will continue to be developed and maintained. These will be used in the production of the AGDH resources. User support will be provided through a help desk and continuous training. These activities draw on the extensive experience and valuable outputs of the H3ABioNet consortium, which has been developing capacity and resources for genomics in Africa for more than 9 years. All components of the knowledgebase will work with public database counterparts in the USA and United Kingdom (dbGAP, EGA, INSDC, GWAS Catalog, gnoMAD) to ensure alignment, avoid redundancy, fill gaps, and cover niche areas The AGDH will collate and add significant value to African genomic data and ensure findability and accessibility to the global scientific community that would not otherwise be available, thus facilitating compliance with FAIR principles.

非洲基因组数据集线器生物医学知识库 项目摘要 非洲基因组数据有可能使全球研究人员和临床医生受益 全球人口的非洲起源，以及目前的人口广泛的地理传播 非洲血统。但是，非洲基因组数据很少，并且通常保存在孤岛或之下 受控的访问，通常不会在适当水平的粒度上进行策划。非洲人 基因组学数据中心（AGDH）生物医学知识库的目的是通过 为非洲血统人群提供了精心策划的基因组数据的集中资源 提高可发现性和可访问性。更具体地说，Knowlegebase将充当 数据提交中心，向公众推广多量量和遗传数据的提交 存储库，确保遵守国际标准和数据质量。现有数据中 公共存储库和文献将通过Web门户进行进一步策划和访问 专注于与非洲相关的信息。来自 出于正当原因，GNOMAD或其他数据库中没有可用的非洲血统，将 在托管的非洲基因组变异数据库中获得适当的访问水平 由AGDH。数据集将通过目录进行索引和搜索，以提高可发现性。 此外，与非洲数据的处理和分析有关的工具和资源 （非洲pangenome和参考图，非洲参考面板和插补服务） 在国际努力中的补充和填补空白将继续发展，并 维护。这些将用于生产AGDH资源。用户支持将是 通过服务台和持续培训提供。这些活动借鉴了广泛的 H3ABIONET财团的经验和宝贵的产出 非洲基因组学的能力和资源超过9年。所有组成部分 知识库将与美国和英国的公共数据库对应 （DBGAP，EGA，INSDC，GWAS目录，GNOMAD）确保对齐，避免冗余，填充 差距，覆盖利基区AGDH将整理并为非洲增加重大价值 基因组数据并确保全球科学界的可发现性和可访问性 否则将不可用，从而促进遵守公平原则。