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SNP based literature and data retrieval
(University of the Western Cape, 2016)
Reference single nucleotide polymorphism (refSNP) identifiers are used to earmark SNPs in the human genome. These identifiers are often found in variant call format (VCF) files. RefSNPs can be useful to include as terms ...
The development of a single nucleotide polymorphism database for forensic identification of specified physical traits
(University of the Western Cape, 2009)
Many Single Nucleotide Polymorphisms (SNPs) found in coding or regulatory regions within the human genome lead to phenotypic differences that make prediction of physical appearance, based on genetic analysis, potentially ...
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 ...
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 ...
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 ...
Development of an operon detection algorithm to analyze gene regulation in drug resistant Mycobacterium tuberculosis
(University of the Western Cape, 2022)
In prokaryotes, operon structures often form to allow microorganisms to respond rapidly and efficiently to changing environmental conditions. Operons are sets of neighbouring genes which are co-regulated and co-transcribed. ...