David Twesigomwe
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View article: Characterisation of pharmacogenomic variation in the Shetland and Orkney Isles in Scotland
Characterisation of pharmacogenomic variation in the Shetland and Orkney Isles in Scotland Open
Genetic variation is partly responsible for variability in drug response across populations. However, the full catalogue of pharmacogenetic variants and their distribution are yet to be established, thus posing challenges in implementing i…
View article: Hypertension treatment practices and outcomes at health community centres in urban Soweto, South Africa
Hypertension treatment practices and outcomes at health community centres in urban Soweto, South Africa Open
View article: Genetic Variation in Hydrochlorothiazide Response‐Related Genes Among Hypertensive Individuals in Soweto, South Africa
Genetic Variation in Hydrochlorothiazide Response‐Related Genes Among Hypertensive Individuals in Soweto, South Africa Open
Africa bears the largest burden of morbidity and mortality from hypertension (HT) and related cardiovascular diseases. Thiazide diuretics, including hydrochlorothiazide (HCTZ), are the most prescribed hypertension medicines globally due to…
View article: Pharmacogenomics in Africa: A Potential Catalyst for Precision Medicine in Genetically Diverse Populations
Pharmacogenomics in Africa: A Potential Catalyst for Precision Medicine in Genetically Diverse Populations Open
Genetic variation is a major determinant of drug response across populations. Owing to advances in sequencing technologies over the last two decades, several clinically actionable variants or haplotypes have been characterized in genes tha…
View article: Characterization of <i>NAT</i>, <i>GST</i>, and <i>CYP2E1</i> Genetic Variation in Sub‐Saharan African Populations: Implications for Treatment of Tuberculosis and Other Diseases
Characterization of <i>NAT</i>, <i>GST</i>, and <i>CYP2E1</i> Genetic Variation in Sub‐Saharan African Populations: Implications for Treatment of Tuberculosis and Other Diseases Open
Tuberculosis (TB) is a major health burden in Africa. Although TB is treatable, anti‐TB drugs are associated with adverse drug reactions (ADRs), which are partly attributed to pharmacogenetic variation. The distribution of star alleles (ha…
View article: High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation Open
Fewer than half of individuals with a suspected Mendelian or monogenic condition receive a precise molecular diagnosis after comprehensive clinical genetic testing. Improvements in data quality and costs have heightened interest in using l…
View article: PharmVar GeneFocus: <i>CYP2A6</i>
PharmVar GeneFocus: <i>CYP2A6</i> Open
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the human CYP2A gene locus containing the highly polymorphic CYP2A6 gene. CYP2A6 plays a role in the metabolism of nicotine and various drugs. Thus, genetic variati…
View article: The variation landscape of CYP2D6 in a multi-ethnic Asian population
The variation landscape of CYP2D6 in a multi-ethnic Asian population Open
Cytochrome P450 2D6 (CYP2D6) plays a crucial role in metabolizing approximately 20% of medications prescribed clinically. This enzyme is encoded by the CYP2D6 gene, known for its extensive polymorphism with over 170 catalogued haplotypes o…
View article: Short-read full-length 16S rRNA amplicon sequencing for characterisation of the respiratory bacteriome of captive and free-ranging African elephants (Loxodonta africana)
Short-read full-length 16S rRNA amplicon sequencing for characterisation of the respiratory bacteriome of captive and free-ranging African elephants (Loxodonta africana) Open
View article: Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation Open
Less than half of individuals with a suspected Mendelian condition receive a precise molecular diagnosis after comprehensive clinical genetic testing. Improvements in data quality and costs have heightened interest in using long-read seque…
View article: The variation landscape of<i>CYP2D6</i>in a multi-ethnic Asian population
The variation landscape of<i>CYP2D6</i>in a multi-ethnic Asian population Open
Cytochrome P450 2D6 (CYP2D6) plays a crucial role in metabolizing approximately 20% of medications prescribed clinically. This enzyme is encoded by the CYP2D6 gene, known for its extensive polymorphism with over 170 catalogued haplotypes o…
View article: Characterization of <i>CYP2B6</i> and <i>CYP2A6</i> Pharmacogenetic Variation in <scp>Sub‐Saharan</scp> African Populations
Characterization of <i>CYP2B6</i> and <i>CYP2A6</i> Pharmacogenetic Variation in <span>Sub‐Saharan</span> African Populations Open
Genetic variation in CYP2B6 and CYP2A6 is known to impact interindividual response to antiretrovirals, nicotine, and bupropion, among other drugs. However, the full catalogue of clinically relevant pharmacogenetic variants in these genes i…
View article: Short-read full-length 16S rRNA amplicon sequencing for characterisation of the respiratory bacteriome of captive and free-ranging African elephants (Loxodonta africana).
Short-read full-length 16S rRNA amplicon sequencing for characterisation of the respiratory bacteriome of captive and free-ranging African elephants (Loxodonta africana). Open
Hypervariable region sequencing of the 16S rRNA gene plays a critical role in microbial ecology, offering insights into bacterial communities within specific niches. While providing valuable genuslevel information, its reliance on limited …
View article: Characterization of <i>CYP2C19</i> Pharmacogenetic Variation in African Populations and Comparison with Other Global Populations
Characterization of <i>CYP2C19</i> Pharmacogenetic Variation in African Populations and Comparison with Other Global Populations Open
Background: CYP2C19 is important in the metabolism of clopidogrel and several antidepressants. This study aimed to characterize the distribution of CYP2C19 star alleles (haplotypes) across diverse African populations c…
View article: Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations
Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations Open
The CYP2D6 gene has been widely studied to characterize variants and/or star alleles, which account for a significant portion of variability in drug responses observed within and between populations. However, African populations remain und…
View article: Characterization of <scp><i>CYP2D6</i></scp> Pharmacogenetic Variation in <scp>Sub‐Saharan</scp> African Populations
Characterization of <span><i>CYP2D6</i></span> Pharmacogenetic Variation in <span>Sub‐Saharan</span> African Populations Open
Cytochrome P450 2D6 (CYP2D6) is a key enzyme in drug response owing to its involvement in the metabolism of ~ 25% of clinically prescribed medications. The encoding CYP2D6 gene is highly polymorphic, and many pharmacogenetics studies have …
View article: Characterization of <i>POR</i> Haplotype Distribution in African Populations and Comparison with Other Global Populations
Characterization of <i>POR</i> Haplotype Distribution in African Populations and Comparison with Other Global Populations Open
Background & aim: POR is an enzyme that mediates electron transfer to enable the drug-metabolizing activity of CYP450 proteins. However, POR has been understudied in pharmacogenomics despite this vital role. This study aimed …
View article: Characterizing domain-specific open educational resources by linking ISCB Communities of Special Interest to Wikipedia
Characterizing domain-specific open educational resources by linking ISCB Communities of Special Interest to Wikipedia Open
Motivation Wikipedia is one of the most important channels for the public communication of science and is frequently accessed as an educational resource in computational biology. Joint efforts between the International Society for Computat…
View article: COSI-Article matrix: linking ISCB Communities of Special Interest to Wikipedia
COSI-Article matrix: linking ISCB Communities of Special Interest to Wikipedia Open
Wikipedia is regarded as one of the most important channels for the public communication of science; English Wikipedia has around 1,500 articles relating to computational biology, which are frequently accessed as an educational resource. J…
View article: COSI-Article matrix: linking ISCB Communities of Special Interest to Wikipedia
COSI-Article matrix: linking ISCB Communities of Special Interest to Wikipedia Open
Wikipedia is regarded as one of the most important channels for the public communication of science; English Wikipedia has around 1,500 articles relating to computational biology, which are frequently accessed as an educational resource. J…
View article: The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations
The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations Open
Introduction: Investigating variation in genes involved in the absorption, distribution, metabolism, and excretion (ADME) of drugs are key to characterizing pharmacogenomic (PGx) relationships. ADME gene variation is relatively well charac…
View article: A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping
A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping Open
View article: The extent and impact of variation in ADME genes in sub-Saharan African populations
The extent and impact of variation in ADME genes in sub-Saharan African populations Open
Investigating variation in genes involved in the absorption, distribution, metabolism , and excretion (ADME) of drugs are key to characterising pharmacogenomic (PGx) relationships. ADME gene variation is relatively well characterised in Eu…