African Genomics Data Hub Biomedical Knowledgebase

非洲基因组学数据中心生物医学知识库 项目摘要 非洲基因组数据有可能造福世界各地的研究人员和临床医生，给定 全球人口的非洲起源，以及目前广泛的地理分布 非洲血统。然而，非洲的基因组数据很稀少，通常保存在孤岛或更低的地方 受控访问，通常不在适当的粒度级别进行管理。非洲人 基因组学数据中心(AGDH)生物医学知识库旨在通过 为非洲裔人口提供集中的精选基因组数据资源 以提高可查找性和可获得性。更具体地说，该知识库将作为 数据提交中心推动向公众提交多组学和基因数据 存储库，确保遵守国际标准和数据质量。中的现有数据 公共储存库和文献将进一步得到管理，并可通过门户网站访问 重点关注与非洲有关的信息。来自日本血吸虫种群的聚合基因组数据 由于正当原因无法在gnoMAD或其他数据库中找到的非洲血统，将 在托管的非洲基因组变异数据库中提供适当的访问级别 由农业发展局提供。数据集将被编入索引，并可通过目录进行搜索，以增加可查找性。 此外，与处理和分析非洲数据有关的工具和资源 (非洲问题组和参照图、非洲参照组和归责服务) 将继续发展和填补国际努力中的空白，并 维护好了。这些资源将用于生产AGDH资源。用户支持将是 通过服务台和持续培训提供。这些活动利用了广泛的 H3ABioNet财团的经验和宝贵成果，该财团一直在开发 超过9年的非洲基因组学能力和资源。的所有组件 Knowledgebase将与美国和英国的公共数据库合作 (DBGaP、EGA、INSDC、Gwas Catalog、gnoMAD)以确保对齐、避免冗余、填充 差距，覆盖利基领域，AGDH将对非洲进行整理并为其增加重大价值 基因组数据，并确保全球科学界可以找到和访问 在其他情况下是无法获得的，从而促进遵守公平原则。

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.