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Innovative Medicines & Omics                                        Open source bioinformatics tools in Africa



            3.4.4. Population linkage or pedigree linkage      research to align sequences of drought-resistant crops, such

            In addition to FastQC and BWA, tools like PLINK have   as maize and sorghum. For example, in Kenya, researchers
            been  instrumental  in  analyzing  large-scale  genomic   used MAFFT to compare the genomes of drought-tolerant
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            datasets, enabling researchers to identify genetic variants   and drought-susceptible maize varieties.  This led to the
            associated with complex diseases. It is a widely used open-  identification of key genes (e.g.,  ZmDREB2A) involved
            source toolset for genome-wide association studies and   in drought resistance, the development of improved
            genetic data analysis.  For example, PLINK has been used   crop varieties through marker-assisted breeding, and the
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            in studies on HIV resistance in South Africa, providing   enhancement of food security in drought-prone regions.
            insights into host-pathogen interactions.            In addition,  MAFFT has been used to study genetic
                                                               diseases prevalent in Africa, such as sickle cell anemia.
            3.4.5. Multiple alignment using fast Fourier transform   By aligning sequences of the  HBB gene from different
            (MAFFT)                                            populations,  researchers  have  identified  novel  single
            MAFFT is an open-source bioinformatics tool used   nucleotide polymorphisms associated with disease severity
            for multiple sequence  alignment,  which is  essential   and population-specific genetic markers for personalized
            for comparing and analyzing DNA, RNA, or protein   medicine.
            sequences. MAFFT is known for its speed, accuracy,   Besides infectious disease research and genomic
            and ability to handle large datasets, making it a popular   studies, MAFFT has also been used in phylogenetic
            choice for phylogenetic analysis, evolutionary studies, and   analysis. MAFFT has been used to construct phylogenetic
            functional annotation.
                                                               trees for pathogens like M. tuberculosis (the causative agent
              Key features of MAFFT include high accuracy, as it uses   of TB) and SARS-CoV-2 (responsible for COVID-19). For
            advanced algorithms (e.g., fast Fourier transform) to align   example, during the COVID-19 pandemic, researchers
            sequences with high precision, high speed (optimized for   in South Africa used MAFFT to align viral genomes and
            rapid alignment of large datasets, even with thousands   track the emergence of the Beta variant (B.1.351).  This
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            of sequences), and flexibility, as it supports various   enabled early detection of the variant, rapid public health
            alignment strategies, including progressive, iterative,   responses, including lockdowns and vaccine deployment,
            and consistency-based methods. It is also user-friendly,   and global sharing of genomic data through platforms like
            offering  both  command-line  and  web-based  interfaces   GISAID.
            for ease of use. It is compatible with other bioinformatics
            tools for downstream analysis, such as phylogenetic tree   In summary, these tools have fostered local expertise
            construction. MAFFT has been instrumental in advancing   in computational drug discovery, empowering African
                                                               researchers to develop homegrown solutions to regional
            genomic and infectious disease research in Africa.
                                                               health problems.
              Under HIV and Ebola research, MAFFT has been
            used to align viral genomes from the HIV and Ebola   3.5. Structural biology insights: PDB
            outbreaks in Africa. For example, during the 2014 – 2016   3.5.1. African contributions to structural biology
            Ebola outbreak in West Africa, researchers used MAFFT
            to align viral sequences from different patients.  This   African  researchers  have  made  significant  contributions
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            allowed them to track the evolution of the virus, identify   on the global scientific stage. A  notable example is the
            key mutations associated with increased transmissibility   deposition of the  P. falciparum dihydrofolate reductase
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            or virulence, and inform public health strategies, such as   (PfDHFR) structure into the PDB. Molefe et al.  showed
            targeted containment and vaccine development.      that inhibitors binding to PfDHFR could significantly
                                                               reduce its activity, which is critical for next-gen antimalarial
              Moreover, MAFFT has been used to align sequences   drugs.  This demonstrates the region’s growing scientific
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            of the  P. falciparum parasite, which causes malaria. By   prowess.
            comparing sequences from different regions of Africa,
            researchers have identified genetic variations linked to   3.5.2. PDB data for African-specific diseases
            drug resistance.  This has helped develop region-specific   The PDB, combined with tools such asBioPython and
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            treatment protocols and prevent the spread of drug-  PyMOL, has transformed our understanding of pathogen
            resistant malaria strains.                         structures. Structural analyses of the  M. tuberculosis
              For genomic studies, MAFFT has been employed in   KasA protein revealed novel binding sites for potential
            various fields, such as crop and human genomics. In the   inhibitors. This work goes beyond academic curiosity; it
            context of crop genomics, MAFFT was used in agricultural   is vital for developing treatments tailored to Africa’s needs.


            Volume 2 Issue 2 (2025)                         57                               doi: 10.36922/imo.8111
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