Nature Search

A map of blood regulatory variation in South Africans enables GWAS interpretation

This study maps regulatory variation in blood using whole-genome and transcriptome data from 614 South Africans, providing a resource to aid the interpretation of genome-wide association studies in African populations.

Stephane E. Castel
Furahini D. Tluway
Michèle Ramsay
ResearchOpen Access11 Jun 2025
Nature Genetics

P: 1-10
Expanding the human gut microbiome atlas of Africa

A cross-sectional study from four African countries shows the importance of investigating the gut microbiome in previously under-represented populations and provides a framework for equitable microbiome research.

Dylan G. Maghini
Ovokeraye H. Oduaran
Scott Hazelhurst
ResearchOpen Access29 Jan 2025
Nature

Volume: 638, P: 718-728
Short- and long-read metagenomics of urban and rural South African gut microbiomes reveal a transitional composition and undescribed taxa

In this study, Wits and Stanford researchers use short- and long-read DNA sequencing to profile the gut microbiome of women living in rural and urban South Africa and identify transitional composition, high inter-individual diversity, and many undescribed taxa.

Fiona B. Tamburini
Dylan Maghini
Ami S. Bhatt
ResearchOpen Access22 Feb 2022
Nature Communications

Volume: 13, P: 1-18
The power of genetic diversity in genome-wide association studies of lipids

A genome-wide association meta-analysis study of blood lipid levels in roughly 1.6 million individuals demonstrates the gain of power attained when diverse ancestries are included to improve fine-mapping and polygenic score generation, with gains in locus discovery related to sample size.

Sarah E. Graham
Shoa L. Clarke
Cristen J. Willer
Research09 Dec 2021
Nature

Volume: 600, P: 675-679
Impact of pneumococcal conjugate vaccines on invasive pneumococcal disease-causing lineages among South African children

Introduction of pneumococcal conjugate vaccines in South Africa has led to reductions in vaccine serotype-related invasive disease. Here, the authors perform a genomic surveillance study to evaluate the impact of vaccines on the population structure of S. pneumoniae.

Cebile Lekhuleni
Kedibone Ndlangisa
Mignon du Plessis
ResearchOpen Access27 Sept 2024
Nature Communications

Volume: 15, P: 1-12
High-depth African genomes inform human migration and health

Whole-genome sequencing analyses of African populations provide insights into continental migration, gene flow and the response to human disease, highlighting the importance of including diverse populations in genomic analyses to understand human ancestry and improve health.

Ananyo Choudhury
Shaun Aron
Neil A. Hanchard
Research28 Oct 2020
Nature

Volume: 586, P: 741-748
Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits

Genetic associations and polygenic scores for lipid traits have low transferability to African individuals. Here, the authors perform a large sub-Sarahan African lipid GWAS and find that larger datasets and better global representation in discovery GWAS help to bridge this gap.

Ananyo Choudhury
Jean-Tristan Brandenburg
Michèle Ramsay
ResearchOpen Access11 May 2022
Nature Communications

Volume: 13, P: 1-13
Author Correction: High-depth African genomes inform human migration and health

Ananyo Choudhury
Shaun Aron
Neil A. Hanchard
Amendments and CorrectionsOpen Access12 Apr 2021
Nature

Volume: 592, P: E26
Genome-wide association study meta-analysis of blood pressure traits and hypertension in sub-Saharan African populations: an AWI-Gen study

Hypertension is a major risk factor for cardiovascular disease prevalent in Africa. Here the authors report a genome-wide study providing insights into the genetics and physiology of blood pressure variation in African populations.

Surina Singh
Ananyo Choudhury
Michèle Ramsay
ResearchOpen Access16 Dec 2023
Nature Communications

Volume: 14, P: 1-14
Genetic associations with carotid intima-media thickness link to atherosclerosis with sex-specific effects in sub-Saharan Africans

Genetic studies of disease-relevant traits have mostly been performed on European populations. Here, the authors perform a genome-wide association study for carotid intima-media thickness, in sub-Saharan African samples, finding population-specific and sex-specific loci.

Palwende Romuald Boua
Jean-Tristan Brandenburg
Michèle Ramsay
ResearchOpen Access14 Feb 2022
Nature Communications

Volume: 13, P: 1-11
Sub-population identification of multimorbidity in sub-Saharan African populations

Adebayo Oshingbesan
Michelle Kamp
Skyler Speakman
ResearchOpen Access22 Apr 2025
Scientific Reports

Volume: 15, P: 1-11
Genetic substructure and complex demographic history of South African Bantu speakers

Despite linguistic and geographic diversity in South Eastern Bantu-speaking (SEB) groups of South Africa, genetic variation in these groups has not been investigated in depth. Here, the authors analyse genome-wide data from 5056 individuals, providing insights into demographic history across SEB groups.

Dhriti Sengupta
Ananyo Choudhury
Michèle Ramsay
ResearchOpen Access07 Apr 2021
Nature Communications

Volume: 12, P: 1-13
Autozygosity influences cardiometabolic disease-associated traits in the AWI-Gen sub-Saharan African study

The prevalence of cardiometabolic diseases (CMDs) is increasing rapidly across Africa. Here, the authors investigate autozygosity in CMD-associated traits in over 10,000 sub-Saharan African individuals, showing these traits are influenced by sex-specific inbreeding depression and environmental interactions.

Francisco C. Ceballos
Scott Hazelhurst
Michèle Ramsay
ResearchOpen Access13 Nov 2020
Nature Communications

Volume: 11, P: 1-8
Author Correction: The power of genetic diversity in genome-wide association studies of lipids

Sarah E. Graham
Shoa L. Clarke
Cristen J. Willer
Amendments and Corrections26 May 2023
Nature

Volume: 618, P: E19-E20
Author Correction: Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits

Ananyo Choudhury
Jean-Tristan Brandenburg
Michèle Ramsay
Amendments and CorrectionsOpen Access02 Aug 2022
Nature Communications

Volume: 13, P: 1-2
Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans

African populations show a high level of genetic diversity and extensive regional admixture. Here, the authors sequence the whole genomes of 24 South African individuals of different ethnolinguistic origin and find substantive genomic divergence between two southeastern Bantu-speaking groups.

Ananyo Choudhury
Michèle Ramsay
Michael S. Pepper
ResearchOpen Access12 Dec 2017
Nature Communications

Volume: 8, P: 1-12
G6PD distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19

Jorge E. B. da Rocha
Houcemeddine Othman
Jorge E. B. da Rocha
ResearchOpen Access23 Jul 2021
The Pharmacogenomics Journal

Volume: 21, P: 649-656
Quantifying bias introduced by sample collection in relative and absolute microbiome measurements

Absolute abundance measurements of microbes reveals information obscured in relative abundance data.

Dylan G. Maghini
Mai Dvorak
Ami S. Bhatt
Research27 Apr 2023
Nature Biotechnology

Volume: 42, P: 328-338
A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping

David Twesigomwe
Galen E. B. Wright
Scott Hazelhurst
ResearchOpen Access03 Aug 2020
npj Genomic Medicine

Volume: 5, P: 1-11
Functional characterisation of the transcriptome from leaf tissue of the fluoroacetate-producing plant, Dichapetalum cymosum, in response to mechanical wounding

Selisha A. Sooklal
Phelelani T. Mpangase
Karl Rumbold
ResearchOpen Access25 Nov 2020
Scientific Reports

Volume: 10, P: 1-14
Genetic variants in SEC16B are associated with body composition in black South Africans

Venesa Sahibdeen
Nigel J. Crowther
Zané Lombard
ResearchOpen Access19 Jul 2018
Nutrition & Diabetes

Volume: 8, P: 1-10

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A map of blood regulatory variation in South Africans enables GWAS interpretation

Expanding the human gut microbiome atlas of Africa

Short- and long-read metagenomics of urban and rural South African gut microbiomes reveal a transitional composition and undescribed taxa

The power of genetic diversity in genome-wide association studies of lipids

Impact of pneumococcal conjugate vaccines on invasive pneumococcal disease-causing lineages among South African children

High-depth African genomes inform human migration and health

Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits

Author Correction: High-depth African genomes inform human migration and health

Genome-wide association study meta-analysis of blood pressure traits and hypertension in sub-Saharan African populations: an AWI-Gen study

Genetic associations with carotid intima-media thickness link to atherosclerosis with sex-specific effects in sub-Saharan Africans

Sub-population identification of multimorbidity in sub-Saharan African populations

Genetic substructure and complex demographic history of South African Bantu speakers

Autozygosity influences cardiometabolic disease-associated traits in the AWI-Gen sub-Saharan African study

Author Correction: The power of genetic diversity in genome-wide association studies of lipids

Author Correction: Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits

Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans

G6PD distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19

Quantifying bias introduced by sample collection in relative and absolute microbiome measurements

A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping

Functional characterisation of the transcriptome from leaf tissue of the fluoroacetate-producing plant, Dichapetalum cymosum, in response to mechanical wounding

Genetic variants in SEC16B are associated with body composition in black South Africans

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