With support from UK Research Innovation, the project sequenced over 200 high-quality, full-length human genomes and epigenomes using the Oxford Nanopore Technologies (ONT) PromethION, becoming the first on the continent to achieve such a milestone.

Professor Andrew Prentice, principal investigator for the project, commented “The remarkable ONT methodology allows ultra-long reads of whole human genomes with the additional benefit of methylation calling which is critical for our epigenetic studies. Producing many terabytes of data, the technology presents considerable data storage and bioinformatics challenges which have been overcome in reaching this first landmark. We expect the insights to further our understanding of how a mother’s diet at the time of conception resets her offspring’s methylome in the very first few days after conception with lifelong effects on health.”

The 200 genomes, drawn from the HERO-G (Hormonal and Epigenetic Regulators of Growth) cohort, are very well characterized as pregnant women were recruited in the study with follow till birth and the infants until 24 months of age. This data will enable genome wide investigations for signatures of epigenetic effects on any loci that might affect growth and lifelong health.

Dr. Abdul Karim Sesay, Head of the Genomics Strategic Core Platform at MRCG, underscored the significant milestone of the project in genomics research.

“MRCG at LSHTM’s brave investment in establishing a High-Performance Computing Cluster and a state-of-the-art Genomics Facility has paid off handsomely with the milestone we are celebrating. To have human samples that were collected in Africa, processed in Africa, full high coverage sequencing in Africa, and MRCG at LSHTM is massive. I am proud to be part of this successful development,” he stated.

He added that the collaboration with ONT PromethION in advancing genomics research started over a decade ago and has gotten stronger over the years. The support and commitment from ONT leadership to the MRCG, the platform, and our regional partners, has been exemplary and productive, he highlighted.

Prachand Issarapu, a postdoctoral research fellow at the MRCG at LSHTM, emphasised, "This represents a significant global milestone as it not only enables us to uncover the mysteries of African genomes but also boosts their representation globally. It’s a long-awaited achievement, and I am excited to explore this treasure trove of data."

MRCG at LSHTM has a long-standing relationship with ONT, being the first in the continent to acquire both the GridION and PromethION systems and to achieve certification as a service provider for these technologies.

Jarra Manneh, the sequencing lab manager at MRCG at LSHTM highlighted that, “This is indeed a great achievement not only for the MRCG but the continent of Africa as it will add to the little African genomes available out there. This is all possible as a result of the investments made in genomics and the enabling environment available in the unit to do such research.”