African Genomic Medicine Portal: a web portal for biomedical applications. Othman, H., Zass, L., da Rocha, J. E., Radouani, F., Samtal, C., Benamri, I., Kumuthini, J., Fakim, Y. J., Hamdi, Y., Mezzi, N., Boujemaa, M., Okeke, C. J., Tendwa, M. B., Sanak, K., Chaouch, M., Panji, S., Kefi, R., Sallam, R. M., Ghoorah, A. W., Romdhane, L., Kiran, A., Meintjes, A. P., Maturure, P., Jmel, H., Ksouri, A., Azzouzi, M., Farahat, M. A., Ahmed, S., Sibira, R., Turkson, M. E., Ssekagiri, A., Parker, Z., Fadlelmola, F. M., Ghedira, K., Mulder, N., & Kassim, S. K. Journal of Personalized Medicine, 12(2):265, Multidisciplinary Digital Publishing Institute, feb, 2022. ![African Genomic Medicine Portal: a web portal for biomedical applications [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper doi abstract bibtex 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.
@article{Othman2022,
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.},
author = {Othman, Houcemeddine and Zass, Lyndon and da Rocha, Jorge E.B. and Radouani, Fouzia and Samtal, Chaimae and Benamri, Ichrak and Kumuthini, Judit and Fakim, Yasmina J. and Hamdi, Yosr and Mezzi, Nessrine and Boujemaa, Maroua and Okeke, Chiamaka Jessica and Tendwa, Maureen B. and Sanak, Kholoud and Chaouch, Melek and Panji, Sumir and Kefi, Rym and Sallam, Reem M. and Ghoorah, Anisah W. and Romdhane, Lilia and Kiran, Anmol and Meintjes, Ayton P. and Maturure, Perceval and Jmel, Haifa and Ksouri, Ayoub and Azzouzi, Maryame and Farahat, Mohammed A. and Ahmed, Samah and Sibira, Rania and Turkson, Michael E.E. and Ssekagiri, Alfred and Parker, Ziyaad and Fadlelmola, Faisal M. and Ghedira, Kais and Mulder, Nicola and Kassim, Samar Kamal},
doi = {10.3390/JPM12020265},
file = {:C$\backslash$:/Users/01462563/AppData/Local/Mendeley Ltd./Mendeley Desktop/Downloaded/Othman et al. - 2022 - African Genomic Medicine Portal a web portal for biomedical applications.pdf:pdf},
issn = {2075-4426},
journal = {Journal of Personalized Medicine},
keywords = {Africa,OA,OA{\_}PMC,clinical genetics,database,fund{\_}not{\_}ack,genomic medicine,original,portal},
mendeley-tags = {OA,OA{\_}PMC,fund{\_}not{\_}ack,original},
month = {feb},
number = {2},
pages = {265},
pmid = {35207753},
publisher = {Multidisciplinary Digital Publishing Institute},
title = {{African Genomic Medicine Portal: a web portal for biomedical applications}},
url = {https://www.mdpi.com/2075-4426/12/2/265/htm https://www.mdpi.com/2075-4426/12/2/265},
volume = {12},
year = {2022}
}
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