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Now showing items 11-20 of 24
Computational verification of published human mutations
(University of the Western Cape, 2008)
The completion of the Human Genome Project, a remarkable feat by any measure, has provided over three billion bases of reference nucleotides for comparative studies. The next, and perhaps more challenging step is to analyse ...
Concept Based Knowledge Discovery from Biomedical Literature
(University of the Western Cape, 2009)
This thesis describes and introduces novel methods for knowledge discovery and presents a software system that is able to extract information from biomedical literature, review interesting connections between various ...
Computational analysis of multi-omic data for the elucidation of molecular mechanisms of neuroblastoma
(University of Western Cape, 2021)
Neuroblastoma is the most common extracranial solid tumor in childhood. The survival rates of patients with neuroblastoma, especially those in the high-risk category, are still low despite varied therapies. The detailed ...
Single nucleotide polymorphism association studies of ABCA13 and ABHD11 genes and the bioinformatics analysis of the autism candidate genes localized on chromosome 7
(University of the Western Cape, 2016)
Autism, Aspergers Syndrome and Pervasive Developmental Delay-Not Otherwise Specified (PDD-NOS), among others, fall under an umbrella of disorders known as Autism Spectrum Disorder. Twin studies show that autism is a highly ...
DNA metabarcoding for the identification of species within vegetarian food samples
(University of the Western Cape, 2021)
Aims DNA metabarcoding has recently emerged as a valuable supplementary tool to ensure food authenticity within the global food market. However, it is widely known that highly processed food samples are one of DNA ...
Reconstruction of gene regulatory networks of inflammation-associated genes in different clinical stages of diffuse large B-cell lymphoma
(University of the Western Cape, 2022)
Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous malignancy
that is driven by complex gene regulatory networks (GRNs). Numerous genes exert
distinct effects on the progression and therapeutic outcome of DLBCL. ...
A deep learning approach to predicting potential virus species crossover using convolutional neural networks and viral protein sequence patterns
(University of the Western Cape, 2022)
Medical science has made substantial progress toward diagnosing, understanding the pathogenesis, and treating various causative agents of infectious disease; however, novel microbial pathogens continue to emerge, and ...
Homology modelling and characterization of three-dimensional (3d) protein structures of selected variants of cyp3a4
(University of the Western Cape, 2022)
The efficacy and toxicity of several drugs and prodrugs are influenced by the interindividual
genetic variations in drug-metabolising enzymes. Cytochrome P450
enzymes constitute the major metabolising enzymes in humans. ...
An investigation into the genetic basis of autosomal recessive Osteogenesis imperfecta (OI) III in a South African family of mixed ancestry
(University of the Western Cape, 2022)
Osteogenesis Imperfecta (OI) is a rare skeletal dysplasia that is primarily characterized by bone fragility, recurrent fractures, and bone deformities. Over the years there has been an increase in the number of genes ...
Next generation sequencing approaches for novel gene discovery in South African Parkinson’s disease families
(University of the Western Cape, 2022)
In the last decade, next-generation sequencing (NGS) approaches have revolutionised
the study of human genomics, particularly aiding the understanding of genetic diseases. Parkinson’s
disease (PD) is a complex neurodegenerative ...