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使全世界的研究人员和临床医生受益， 全球人口的非洲起源，以及目前人口的广泛地理分布， 非洲血统然而，非洲的基因组数据很少，往往保存在筒仓或地下， 受控访问，通常没有以足够的粒度级别进行管理。非洲 基因组学数据中心（AGDH）生物医学知识库旨在通过以下方式解决这些问题： 为非洲血统的人群提供集中的精选基因组数据资源 以增加可查找性和可访问性。更具体地说，知识库将作为 资料提交中心鼓励公众提交多组学及基因资料 数据库，确保遵守国际标准和数据质量。中的现有数据 公共知识库和文献将进一步整理，并可通过门户网站访问 重点关注非洲相关信息。来自以下人群的聚合基因组数据 由于合理的原因，在gnoMAD或其他数据库中不可用的非洲血统，将 在非洲基因组变异数据库中提供适当的访问级别 以阿罗汉。将通过目录为数据集编制索引和进行检索，以提高查找能力。 此外，与处理和分析非洲数据有关的工具和资源 （非洲泛基因组和参考图，非洲参考小组和估算服务） 补充和填补国际努力中的差距的工作将继续发展， 树立政治意识这些将用于制作AGDH资源。用户支持将 通过服务台和持续培训提供。这些活动利用了广泛的 H3ABioNet联盟的经验和宝贵成果，该联盟一直在开发 非洲基因组学的能力和资源超过9年。的所有组件 知识库将与美国和英国的公共数据库同行合作 （dbGAP、EGA、INSDC、GWAS Catalog、gnoMAD）以确保对齐、避免冗余、填充 非洲人权咨询小组将整理非洲人权状况， 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。

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.