Development of Bioinformatics Infrastructure for Genomics Research.

Area of Science:

• Genomics
• Bioinformatics
• Public Health

Background:

• Large-scale genomic data analysis in Africa is limited by expertise and infrastructure.
• H3ABioNet (Human Heredity and Health in Africa Bioinformatics Network) was established to address this gap.
• The network aims to build capacity for African researchers to analyze genomic data within Africa.

Purpose of the Study:

• To develop core bioinformatics infrastructure and capacity for genomics research in Africa.
• To support data collection, transfer, storage, and analysis for H3Africa researchers.
• To evolve H3ABioNet's role based on the changing needs of the African bioinformatics community.

Main Methods:

• Developed resources for genomic data management and analysis, including NetMap for network performance and Globus Online for data transfer.
• Implemented participant recruitment databases and data harmonization using ontologies and controlled vocabularies.
• Deployed data analysis platforms (Galaxy, Job Management System, eBiokits) and developed containerized, scalable pipelines for diverse H3Africa data types.

Main Results:

• Established robust bioinformatics infrastructure and capacity across Africa.
• Facilitated data transfer, storage, and analysis through developed tools and platforms.
• Created specialized tools for analyzing unique African genomic data and interpreting variants.

Conclusions:

• H3ABioNet has significantly contributed to establishing African scientific networks, data analysis facilities, and training programs over four years.
• The developed infrastructure and capacity have positively impacted genomics and bioinformatics research in Africa.
• The network continues to evolve, providing essential support and training for African researchers.