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Thesis - Campus Access Only
Master of Science (MS)
hemoglobin, phylogenetic tree, sequence alignment, sickle cell anemia, Single Nucleotide Polymorphism, SNP
The term single nucleotide polymorphism (SNP) refers to the occurrence of small,
i.e., single nucleotide, change in the DNA sequence of an organism. Many common and
significant diseases like Alzheimer's and diabetes have been attributed to the presence of
SNPs in the human genome. This thesis investigates new and simpler methods to reliably
identify malicious SNPs related to a particular disease in the human genome. We have
developed a system called the RIADS-SNP Analyzer to identify and isolate harmful dis-
ease causing SNPs based on the affected amino acid, their biochemical properties, and
consequent change in protein structure. The RIADS system has three main components:
learning component, testing component, and annotation component. All three compo-
nents have been implemented and the results have been verified with existing packages
using the hemoglobin gene sequence as a case study.
Radhakrishnan, Lakshmi, "Robust Identification and Annotation of Disease-Causing SNPs in the Human Genome" (2010). Master's Theses. 3787.