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Journal Articles Journal of Personalized Medicine Year : 2022

African Genomic Medicine Portal: A Web Portal for Biomedical Applications

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Lyndon Zass
Fouzia Radouani
Judit Kumuthini
Kholoud Sanak
  • Function : Author
  • PersonId : 1129443
Sumir Panji
  • Function : Author
  • PersonId : 1129444
Anisah W. Ghoorah
  • Function : Author
  • PersonId : 982267
Maryame Azzouzi
  • Function : Author
  • PersonId : 1129447
Alfred Ssekagiri
  • Function : Author
  • PersonId : 1129448
Faisal M. Fadlelmola
  • Function : Author
  • PersonId : 1129488
Nicola Mulder
  • Function : Author
  • PersonId : 1022903
Samar Kamal Kassim
  • Function : Correspondent author
  • PersonId : 1129450

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Abstract

Genomics data are currently being produced at unprecedented rates, resulting in increased knowledge discovery and submission to public data repositories. Despite these advances, genomic information on African-ancestry populations remains significantly low compared with European- and Asian-ancestry populations. This information is typically segmented across several different biomedical data repositories, which often lack sufficient fine-grained structure and annotation to account for the diversity of African populations, leading to many challenges related to the retrieval, representation and findability of such information. To overcome these challenges, we developed the African Genomic Medicine Portal (AGMP), a database that contains metadata on genomic medicine studies conducted on African-ancestry populations. The metadata is curated from two public databases related to genomic medicine, PharmGKB and DisGeNET. The metadata retrieved from these source databases were limited to genomic variants that were associated with disease aetiology or treatment in the context of African-ancestry populations. Over 2000 variants relevant to populations of African ancestry were retrieved. Subsequently, domain experts curated and annotated additional information associated with the studies that reported the variants, including geographical origin, ethnolinguistic group, level of association significance and other relevant study information, such as study design and sample size, where available. The AGMP functions as a dedicated resource through which to access African-specific information on genomics as applied to health research, through querying variants, genes, diseases and drugs. The portal and its corresponding technical documentation, implementation code and content are publicly available.
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Origin : Publication funded by an institution

Dates and versions

pasteur-03597541 , version 1 (04-03-2022)

Licence

Attribution - CC BY 4.0

Identifiers

Cite

Houcemeddine Othman, Lyndon Zass, Jorge E. B. da Rocha, Fouzia Radouani, Chaimae Samtal, et al.. African Genomic Medicine Portal: A Web Portal for Biomedical Applications. Journal of Personalized Medicine, 2022, 12 (2), pp.265. ⟨10.3390/jpm12020265⟩. ⟨pasteur-03597541⟩
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