Category Archives: Curation


A new study introduces the South African Blood Regulatory (SABR) resource, a functional genomics dataset derived from >600 individuals from three South Eastern Bantu-speaking populations (Pedi/Bapedi, Tsonga, Zulu). The project integrates whole-genome sequencing and blood transcriptome data to map regulatory variation (expression QTLs / splice QTLs / cell-type interaction QTLs) for 40 blood-cell traits. One major finding: many regulatory variants are unique to individuals of African ancestry, and a substantial fraction are entirely absent in non-African populations.





Compared to the widely used GTEx project (which is heavily biased toward European ancestry), SABR detects more regulatory variants per gene—even though the sample size is smaller. The team also utilizes GWAS summary statistics from African-ancestry participants in the Pan-UK Biobank to demonstrate that SABR enhances the interpretation of genetic associations, specifically identifying putative causal genes and mechanisms linked to blood-related traits and disease risks that would otherwise be more difficult to discern.





SABR’s analysis connects changes in blood cell subtype levels with diseases like HIV, obesity, hypertension, asthma, and the effects of smoking. Several variants that influence disease-relevant cell types or levels are common in SABR but rare or unobserved elsewhere. The full SABR summary statistics are being made publicly available to support researchers.





Read the full article here



A groundbreaking study published in Nature Communications has revealed novel genetic variants associated with carotid intima-media thickness (cIMT), a key marker of early atherosclerosis, among nearly 8,000 adults from sub-Saharan Africa. The research, part of the AWI-Gen project, included participants from Burkina Faso, Ghana, Kenya, and South Africa and marks one of the largest genome-wide association studies (GWAS) on cardiovascular risk in African populations.





Two previously unidentified loci, SIRPA and FBXL17, were found to be significantly associated with cIMT, offering new insight into biological pathways involved in vascular health. Notably, the study also identified sex-specific genetic signals: SNX29 in men, and LARP6 and PROK1 in women, the latter two being enriched for estrogen response genes. These findings suggest different genetic mechanisms for cardiovascular risk between men and women.





Many of the variants identified in this African cohort are either rare or absent in European populations, emphasizing the critical need for diversity in genomic research. This study not only deepens our understanding of cardiovascular disease in African communities but also underscores the importance of building inclusive datasets to drive precision medicine. At MyAfroDNA, we champion this kind of Africa-led genomic science.





Read more on this research here: https://www.nature.com/articles/s41467-022-28276-x



A groundbreaking pair of studies published in Antiquity reveals compelling genetic evidence of West African ancestry in two individuals buried in seventh-century England. The first “West African ancestry in seventh-century England: two individuals from Kent and Dorset” was led by Professor Duncan Sayer of the University of Central Lancashire, examining the female burial from Updown, Kent.






The second, focusing on the male burial at Worth Matravers, Dorset, titled Ancient genomes reveal cosmopolitan ancestry and maternal kinship patterns at post-Roman Worth Matravers, Dorset, was led by Dr. Ceiridwen J. Edwards from the University of Huddersfield.





In both cases, mitochondrial DNA traced maternal lineage to Northern Europe, while autosomal DNA showed clear affinity with present-day Yoruba, Mende, Mandenka, and Esan groups, indicating a West African paternal grandparent.

The Updown burial included a Frankish pot and spoon suggestive of Christian or Byzantine connections, highlighting continental ties, whereas the Dorset individual was interred with local artifacts and a burial companion, underscoring full local integration.





These discoveries represent the first genetic proof of sub-Saharan African connections in Early Medieval Britain, reshaping our understanding of migration, identity, and social complexity in that era.





Read more about this discovery here.







A new study published by our partners, the AfricaBP Open Institute, showcases transformative efforts to harness biodiversity genomics and bioinformatics to drive a sustainable African bioeconomy.





The Africa BioGenome Project (AfricaBP) aims to sequence 105,000 non‑human genomes across Africa, spanning plants, animals, fungi, and protozoa, to support food security, conservation, and biotech innovation. To bridge capacity gaps, the AfricaBP Open Institute organized 31 hands‑on regional workshops in 2024 across five geographic regions, engaging participants from over 50 African countries. These sessions trained 401 African researchers in genome sequencing, gene editing, bioinformatics, molecular biology, ethics, and biobanking, strengthening local research infrastructure and skills.





A highlight case study: the proposed “1000 Moroccan Genome Project,” which illustrates economic returns from local genome sequencing. Analysis shows that a US$20 million investment over 10 years could yield US$40 million in discounted benefits and deliver a benefit–cost ratio (BCR) of 3.29—meaning every dollar invested returns more than three dollars in value—particularly across agriculture, R&D, education, and downstream sectors.





Key recommendations emerge: integrate biodiversity genomics and bioinformatics into national bioeconomy strategies, expand capacity‑building initiatives, build regional sequencing hubs, and foster ethical, inclusive data-sharing policies. Strategic investment in these domains positions African nations to capitalize on their unique biodiversity and reclaim ownership of genomic science—a powerful lever toward sustainable development and regional innovation rooted in African knowledge and priorities  .





In short, AfricaBP’s model provides a scalable path for leveraging genomic science to fuel a resilient, inclusive African bioeconomy driven by regional talent and locally generated data. Read more here.







A landmark discovery, scientists have sequenced the genome of a man buried around 4,500–4,800 years ago at Nuwayrat in Middle Egypt, marking the oldest complete genome ever recovered from the region. Likely a potter in his 60s, the man was buried in a sealed ceramic jar carved into rock, a burial that helped preserve his DNA despite Egypt’s harsh climate.





This genome confirms ancient people-to-people contact between Egypt and Mesopotamia, echoing archaeological evidence of shared pottery styles and writing systems. The Nile likely served not just as a trade route for goods and ideas, but for human migration too.





The discovery demonstrates that DNA preservation is possible and important to build a clearer understanding of Africa's genetic history.





Learn more about this research here: https://www.nature.com/articles/d41586-025-02102-y







For the first time, researchers have detected the invasive Anopheles stephensi mosquito in Gayi, a rural area in southern Niger Republic — a country already grappling with one of the world’s highest malaria mortality rates.
Genetic analysis confirmed its presence alongside native malaria vectors such as An. gambiae s.s., An. coluzzii, and An. arabiensis. The coexistence of these species has resulted in elevated biting and transmission rates, aligning with the surge in malaria cases reported in 2024.






Experts warn that without immediate investment in robust surveillance, targeted vector control, and regional collaboration, An. stephensi could spread rapidly across the Sahel and beyond. Its presence poses a serious threat to malaria control efforts, especially in vulnerable regions bordering Niger. Urgent action is needed to contain its spread and mitigate its public health impact across Africa.






Learn more: https://www.nature.com/articles/s41598-025-07389-5



DNA Damages Found to Last Unrepaired for Years, Leading to Mutations that Cause Cancer





This research brings our minds back to the fact that cells in our body can develop somatic mutations as a result of accumulated genetic errors in the genome. This is mostly caused by environmental exposures and other chemical reactions that occur in our cells.





This reveals that wrong copies of a genetic sequence can occur because of DNA Damage. However, there are repair mechanisms within our cells that usually recognize and mend the DNA damage quickly. by repair mechanisms in our cells. The sad part is that these DNA Damages can last unrepaired for years which brings about permanent mutations that lead to the development of various kinds of cancers.





This research reveals a better way science can think about mutations, and understand the development of various cancers. With a proper understanding of mutations leading to cancer, researchers can invent better strategies to slow or completely eradicate them.









Read the full research here.







Over the years, genome sequencing has improved healthcare in no small way. In recent times, researchers have found possible ways to identify potential genetic risks for thousands of diseases by simply analyzing a baby's DNA at birth.





Here are some benefits of newborn genome screening:






  • Early Disease Detection: Genome sequencing can detect genetic disorders before the symptoms appear, preventing serious health complications.




  • Personalized Care: This technology can help streamline medical care to each child's unique genetic makeup.





However, there are some important ethical considerations to be made such as privacy, consent, and the potential for unintended consequences.





As research progresses, genome sequencing holds the potential to revolutionize newborn care and improve the health and well-being of future generations.





Read more about newborn genome screening here.



In Africa, breast cancer accounts for 28% of all cancers and 20% of all cancer deaths in women.  Although advances in early detection and treatment have reduced breast cancer’s ability to take lives overall, it is clear that this breakthrough is yet to benefit all groups equally, especially those of African ancestry.





This is why MyAfroDNA supports research into how African genomes can impact cancer treatment, aiming for more personalized care for everyone. 





It’s breast cancer awareness month this October and every other month, so encourage the women in your life to get screened for breast cancer today.





Let’s work together to raise awareness, share knowledge, and fight breast cancer. It’s breast cancer awareness month encourage the women in your life to get screened today.