Next generation sequencing and bioinformatics analysis of family genetic inheritance

AM Kanzi, JE San, B Chimukangara, E Wilkinson… - Frontiers in …, 2020 - frontiersin.org
Mendelian and complex genetic trait diseases continue to burden and affect society both
socially and economically. The lack of effective tests has hampered diagnosis thus, the …

The importance of increasing population diversity in genetic studies of type 2 diabetes and related glycaemic traits

I Barroso - Diabetologia, 2021 - Springer
Type 2 diabetes has a global prevalence, with epidemiological data suggesting that some
populations have a higher risk of developing this disease. However, to date, most genetic …

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

A Choudhury, JT Brandenburg, T Chikowore… - Nature …, 2022 - nature.com
Genetic associations for lipid traits have identified hundreds of variants with clear differences
across European, Asian and African studies. Based on a sub-Saharan-African GWAS for …

DolphinNext: a distributed data processing platform for high throughput genomics

O Yukselen, O Turkyilmaz, AR Ozturk, M Garber… - BMC genomics, 2020 - Springer
Background The emergence of high throughput technologies that produce vast amounts of
genomic data, such as next-generation sequencing (NGS) is transforming biological …

Using prototyping to choose a bioinformatics workflow management system

M Jackson, K Kavoussanakis… - PLoS computational …, 2021 - journals.plos.org
Workflow management systems represent, manage, and execute multistep computational
analyses and offer many benefits to bioinformaticians. They provide a common language for …

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

PR Boua, JT Brandenburg, A Choudhury… - Nature …, 2022 - nature.com
Atherosclerosis precedes the onset of clinical manifestations of cardiovascular diseases
(CVDs). We used carotid intima-media thickness (cIMT) to investigate genetic susceptibility …

Enhancing microbiome research in sub-Saharan Africa

KI Ayeni, D Berry, CN Ezekiel, B Warth - Trends in Microbiology, 2024 - cell.com
While there are lighthouse examples of microbiome research in sub-Saharan Africa (SSA), a
significant proportion of local researchers face several challenges. Here, we highlight …

Comparison of high-throughput single-cell RNA sequencing data processing pipelines

M Gao, M Ling, X Tang, S Wang, X Xiao… - Briefings in …, 2021 - academic.oup.com
With the development of single-cell RNA sequencing (scRNA-seq) technology, it has
become possible to perform large-scale transcript profiling for tens of thousands of cells in a …

BIGwas: Single-command quality control and association testing for multi-cohort and biobank-scale GWAS/PheWAS data

JC Kässens, L Wienbrandt, D Ellinghaus - GigaScience, 2021 - academic.oup.com
Background Genome-wide association studies (GWAS) and phenome-wide association
studies (PheWAS) involving 1 million GWAS samples from dozens of population-based …

H3AGWAS: a portable workflow for genome wide association studies

JT Brandenburg, L Clark, G Botha, S Panji… - BMC …, 2022 - Springer
Background Genome-wide association studies (GWAS) are a powerful method to detect
associations between variants and phenotypes. A GWAS requires several complex …