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

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

Abstract 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 in...

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Bibliographic Details
Main Authors: Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, Amanda Krause, Benard Kulohoma, Judit Kumuthini, Gerrye Mubungu, John Mukisa, Melissa Nel, Timothy O. Olanrewaju, Zané Lombard, Guida Landouré, as members of the Rare Disease Working Group of the H3Africa Consortium
Format: Article
Language:English
Published: BMC 2022-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Data sharing
NGS interpretation
Diversity
Reference database
Online Access:https://doi.org/10.1186/s13023-022-02391-w

Internet

https://doi.org/10.1186/s13023-022-02391-w

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