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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
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