High-depth African genomes inform human migration and health
…, G Botha, T Bensellak, G Wells, J Kumuthini… - Nature, 2020 - nature.com
The African continent is regarded as the cradle of modern humans and African genomes
contain more genetic variation than those from any other continent, yet only a fraction of the …
contain more genetic variation than those from any other continent, yet only a fraction of the …
[HTML][HTML] A European spectrum of pharmacogenomic biomarkers: implications for clinical pharmacogenomics
Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity
with the underlying genetic composition, particularly in genes encoding for protein factors …
with the underlying genetic composition, particularly in genes encoding for protein factors …
H3ABioNet, a sustainable pan-African bioinformatics network for human heredity and health in Africa
The application of genomics technologies to medicine and biomedical research is
increasing in popularity, made possible by new high-throughput genotyping and sequencing …
increasing in popularity, made possible by new high-throughput genotyping and sequencing …
Bioinformatics education—perspectives and challenges out of Africa
…, K Ghedira, A Ghouila, J Kumuthini… - Briefings in …, 2015 - academic.oup.com
The discipline of bioinformatics has developed rapidly since the complete sequencing of the
first genomes in the 1990s. The development of many high-throughput techniques during …
first genomes in the 1990s. The development of many high-throughput techniques during …
[HTML][HTML] The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review
J Kumuthini, B Zick, A Balasopoulou, C Chalikiopoulou… - Human Genetics, 2022 - Springer
Genomic medicine aims to improve health using the individual genomic data of people to
inform care. While clinical utility of genomic medicine in many monogenic, Mendelian …
inform care. While clinical utility of genomic medicine in many monogenic, Mendelian …
A review of clinical pharmacogenetics Studies in African populations
…, H Jmel, R Kefi, A Ksouri, J Kumuthini… - Personalized …, 2020 - Future Medicine
Effective interventions and treatments for complex diseases have been implemented globally,
however, coverage in Africa has been comparatively lower due to lack of capacity, clinical …
however, coverage in Africa has been comparatively lower due to lack of capacity, clinical …
A call for global action for rare diseases in Africa
…, B Wuebbels, B Djoudalbaye, CP Austin, J Kumuthini… - Nature …, 2020 - nature.com
The 11 th International Conference on Rare Diseases and Orphan Drugs (ICORD), South
Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement …
Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement …
[HTML][HTML] A view on genomic medicine activities in Africa: implications for policy
…, YJ Fakim, Y Hamdi, SK Kassim, J Kumuthini… - Frontiers in …, 2022 - frontiersin.org
Genomics policy development involves assessing a wide range of issues extending from
specimen collection and data sharing to whether and how to utilize advanced technologies in …
specimen collection and data sharing to whether and how to utilize advanced technologies in …
[HTML][HTML] Ten simple rules for providing effective bioinformatics research support
J Kumuthini, M Chimenti, S Nahnsen… - PLoS computational …, 2020 - journals.plos.org
Life scientists are increasingly turning to high-throughput sequencing technologies in their
research programs, owing to the enormous potential of these methods. In a parallel manner, …
research programs, owing to the enormous potential of these methods. In a parallel manner, …
[HTML][HTML] Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases …
…, A Krause, B Kulohoma, J Kumuthini… - Orphanet Journal of …, 2022 - Springer
The rich and diverse genomics of African populations is significantly underrepresented in
reference and in disease-associated databases. This renders interpreting the Next Generation …
reference and in disease-associated databases. This renders interpreting the Next Generation …