Poster ID
P-45
Poster Title
High-Resolution Genomic Characterisation of African Disease Cohorts: The BioAtlas Study
Authors
Tinuade Adeboye, BioVana Research
Chioma Ugwunweze, BioVana Research
Adedamola Dada, BioVana Research
Estelle Dogbo, BioVana Research
Jumi Popoola, BioVana Research
BioAtlas Study Team, BioVana Research
Chioma Ugwunweze, BioVana Research
Adedamola Dada, BioVana Research
Estelle Dogbo, BioVana Research
Jumi Popoola, BioVana Research
BioAtlas Study Team, BioVana Research
Abstract
African populations represent almost a quarter of global humanity yet contribute less than 3% of biomedical data informing research and drug discovery. This disparity limits the utility of disease risk models, pharmacogenomic guidelines, and precision medicine tools for the continent's populations, precisely those facing the fastest-growing burden of non-communicable diseases. The BioAtlas Study, a pan-African multi-center research initiative, was established to address this structural gap.
BioAtlas Study operates across pilot sites in Nigeria and Kenya, enrolling participants across several disease categories: cardiovascular, metabolic, cancer, autoimmune, rare and neglected tropical diseases. Here, we present the design and early implementation of genomic characterisation for representative cohorts in four priority disease categories: cardiovascular disease, metabolic disorders, cancer and rare diseases, enrolled across six participating institutions across Nigeria and Kenya.
Genomic profiling was conducted on selected samples using both biomarker-specific real-time PCR assays as well as high-density imputation-aware genotyping arrays comprising over 850,000 SNPs and indels curated for multi-ancestry coverage, including pharmacogenomic, disease-associated, and functional variant content drawn from ClinVar, the NHGRI-GWAS Catalog, CPIC, and PharmaGKB. The resulting genomic data will be integrated with linked clinical, environmental, and sociodemographic records from participants, to enable multi-dimensional analyses and elucidation of disease drivers in these populations.
Africa's unparalleled genomic diversity provides the scientific case for this project, as it offers the highest potential for novel variant discovery and improved polygenic risk score transferability. Deriving high-quality, community-consented genomic data from African disease cohorts is foundational to advancing global genomic science and equitable precision medicine.
This initiative directly aligns with the GA4GH Strategic Road Map's core mission: enabling the responsible, broad, and democratised use of genomic and health data to benefit human health globally. BioAtlas study is positioned to contribute African population genomic data to global discovery pipelines, and we invite dialogue on federated access, data standards harmonisation, and cross-initiative collaboration.
BioAtlas Study operates across pilot sites in Nigeria and Kenya, enrolling participants across several disease categories: cardiovascular, metabolic, cancer, autoimmune, rare and neglected tropical diseases. Here, we present the design and early implementation of genomic characterisation for representative cohorts in four priority disease categories: cardiovascular disease, metabolic disorders, cancer and rare diseases, enrolled across six participating institutions across Nigeria and Kenya.
Genomic profiling was conducted on selected samples using both biomarker-specific real-time PCR assays as well as high-density imputation-aware genotyping arrays comprising over 850,000 SNPs and indels curated for multi-ancestry coverage, including pharmacogenomic, disease-associated, and functional variant content drawn from ClinVar, the NHGRI-GWAS Catalog, CPIC, and PharmaGKB. The resulting genomic data will be integrated with linked clinical, environmental, and sociodemographic records from participants, to enable multi-dimensional analyses and elucidation of disease drivers in these populations.
Africa's unparalleled genomic diversity provides the scientific case for this project, as it offers the highest potential for novel variant discovery and improved polygenic risk score transferability. Deriving high-quality, community-consented genomic data from African disease cohorts is foundational to advancing global genomic science and equitable precision medicine.
This initiative directly aligns with the GA4GH Strategic Road Map's core mission: enabling the responsible, broad, and democratised use of genomic and health data to benefit human health globally. BioAtlas study is positioned to contribute African population genomic data to global discovery pipelines, and we invite dialogue on federated access, data standards harmonisation, and cross-initiative collaboration.
Digital Poster