Please use this identifier to cite or link to this item: https://scholarbank.nus.edu.sg/handle/10635/19002
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dc.titleMethods for DNA Copy Number Variation Analysis Using High-Throughput Sequencing
dc.contributor.authorXIE CHAO
dc.date.accessioned2011-01-30T18:00:08Z
dc.date.available2011-01-30T18:00:08Z
dc.date.issued2010-06-09
dc.identifier.citationXIE CHAO (2010-06-09). Methods for DNA Copy Number Variation Analysis Using High-Throughput Sequencing. ScholarBank@NUS Repository.
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/19002
dc.description.abstractCopy Number Variation (CNV) is an important class of genetic variation, which has been traditionally studied using microarray-based Comparative Genomic Hybridization. Recently the next-generation sequencing technologies have revolutionized biological research. We developed one of the first methods to detect CNV utilizing DNA sequencing, which we call CNV-seq. This method is based on a robust statistical model that describes the complete analysis procedure and allows the computation of essential confidence values for detection of CNV. The statistical model also shows that the next-generation sequencing technologies are more suitable for CNV-seq than traditional sequencing technologies. Based on the statistical model of CNV-seq, we also developed a two-stage Hidden Markov Model, CNV-segHMM for analyzing CNV-seq data. The resolution of CNV boundary detection by the HMM approach is the distance between two adjacent mapped sequencing reads, which is the highest possible resolution. By increasing the number of reads sequenced, single-nucleotide resolution can be achieved. Together with the increasing speed and decreasing cost of sequencing technologies, we expect our CNV-seq framework and the CNV-segHMM tool to be widely used.
dc.language.isoen
dc.subjectCNV, Copy Number Variation, Sequencing, Genome, CNV-seq
dc.typeThesis
dc.contributor.departmentBIOLOGICAL SCIENCES
dc.contributor.supervisorTAMMI, MARTTI TAPANI
dc.description.degreePh.D
dc.description.degreeconferredDOCTOR OF PHILOSOPHY
dc.identifier.isiutNOT_IN_WOS
Appears in Collections:Ph.D Theses (Open)

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