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Current Status of Next-Generation Sequencing Approaches for Candidate Gene Discovery in Familial Parkinson´s Disease
(Frontiers in Genetics, 2022)
Parkinson’s disease is a neurodegenerative disorder with a heterogeneous genetic etiology. The advent of next-generation sequencing (NGS) technologies has aided novel gene discovery in several complex diseases, including ...
The combat-tb workbench: Making powerful Mycobacterium tuberculosis bioinformatics accessible
(American Society for Microbiology, 2022)
Whole-genome sequencing (WGS) is a powerful method for detecting drug resistance, genetic diversity, and transmission dynamics of Mycobacterium tuberculosis. Implementation of WGS in public health microbiology laboratories ...
A view on genomic medicine activities in Africa: Implications for policy
(Frontiers Media, 2022)
Genomics policy development involves assessing a wide range of issues extending from
specimen collection and data sharing to whether and howto utilize advanced technologies in
clinical practice and public health initiatives. ...
Repurposing based identification of novel inhibitors against mmps5-mmpl5 efflux pump of Mycobacterium smegmatis: A combined in silico and in vitro study
(MDPI, 2022)
In the current era of a pandemic, infections of COVID-19 and Tuberculosis (TB) enhance
the detrimental effects of both diseases in suffering individuals. The resistance mechanisms evolving
in Mycobacterium tuberculosis ...
Selection analysis identifies clusters of unusual mutational changes in omicron lineage ba.1 that likely impact spike function
(Oxford University Press, 2022)
Among the 30 nonsynonymous nucleotide substitutions in the Omicron S-gene are 13 that have only rarely been seen
in other SARS-CoV-2 sequences. These mutations cluster within three functionally important regions of the ...
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: A call‑to‑action by the H3Africa rare diseases working group
(BMC, 2022)
The rich and diverse genomics of African populations is significantly underrepresented in reference and in diseaseassociated
databases. This renders interpreting the Next Generation Sequencing (NGS) data and reaching a ...
The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance
(American Association for the Advancement of Science, 2022)
Investment in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequencing in Africa over the past year has led to a major increase in the number of sequences that have been generated and used to track the ...
SysBiolPGWAS: simplifying post-GWAS analysis through the use of computational technologies and integration of diverse omics datasets
(Bioinformatics, 2022)
Motivation: Post-genome-wide association studies (pGWAS) analysis is designed to decipher the functional consequences of significant single-nucleotide polymorphisms (SNPs) in the era of GWAS. This can be translated into ...
Proteomics analysis of the p.G849D variant in neurexin 2 alpha may reveal insight into Parkinson’s disease pathobiology
(Frontiers, 2022)
Parkinson’s disease (PD), the fastest-growing neurological disorder globally,
has a complex etiology. A previous study by our group identified the p.G849D
variant in neurexin 2 (NRXN2), encoding the synaptic protein, ...
Changes in subcutaneous adipose tissue microRNA expression in response to exercise training in African women with obesity
(Nature Research, 2022)
The mechanisms that underlie exercise-induced adaptations in adipose tissue have not been
elucidated, yet, accumulating studies suggest an important role for microRNAs (miRNAs). This study
aimed to investigate miRNA ...