Please use this identifier to cite or link to this item: http://scholarbank.nus.edu.sg/handle/10635/47622
Title: POTENTIALLY FUNCTIONAL SINGLE NUCLEOTIDE POLYMORPHISMS (PFSNPS) IN THE HUMAN GENOME AND THEIR POTENTIAL APPLICATIONS
Authors: WANG JINGBO
Keywords: SNP, Functional SNP, pfSNP, GWAS, Association Study, Web Resource
Issue Date: 5-Dec-2012
Source: WANG JINGBO (2012-12-05). POTENTIALLY FUNCTIONAL SINGLE NUCLEOTIDE POLYMORPHISMS (PFSNPS) IN THE HUMAN GENOME AND THEIR POTENTIAL APPLICATIONS. ScholarBank@NUS Repository.
Abstract: This dissertation attempts to identify potential functional SNPs (pfSNPs) from >14,000,000 SNPs in NCBI dbSNP release 129. A bioinformatics pipeline was first established and a data warehouse for pfSNPs identified from >40 algorithms/resources was built. The pfSNPs Web Resource (http://pfs.nus.edu.sg/) which is aimed to facilitate better hypothesis generation through knowledge syntheses was then developed. To demonstrate the applicability of the pfSNP resource, I employed this resource to identify pfSNPs that may determine patient response to anti-cancer drugs (5FU/capecitabine and oxaliplatin) in metastatic colorectal cancer patients. Notably, the minor allele of two non-synonymous/non-sense SNP potentially affecting exon-splice enhancers (ESE) and nonsense mediated decay (NMD) as well as a 3¿UTR pfSNP affecting miRNA binding at the UMPS gene was observed only in non-responders but not in responders when >100 patients were examined. In summary, I have identified pfSNPs which may be good marker for anti-cancer drug response
URI: http://scholarbank.nus.edu.sg/handle/10635/47622
Appears in Collections:Ph.D Theses (Open)

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