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Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group
The rich and diverse genomics of African populations is significantly underrepresented in reference and in disease-associated databases. This renders interpreting the Next Generation Sequencing (NGS) data and reaching a diagnostic more difficult in Africa and for the African diaspora. It increases c...
Autores principales: | Lumaka, Aimé, Carstens, Nadia, Devriendt, Koenraad, Krause, Amanda, Kulohoma, Benard, Kumuthini, Judit, Mubungu, Gerrye, Mukisa, John, Nel, Melissa, Olanrewaju, Timothy O., Lombard, Zané, Landouré, Guida |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9201791/ https://www.ncbi.nlm.nih.gov/pubmed/35710439 http://dx.doi.org/10.1186/s13023-022-02391-w |
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