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Virginia Tech

Computational Analysis of Genome-Wide DNA Copy Number Changes

Abstract

dc:description.abstract

DNA copy number change is an important form of structural variation in human genome. Somatic copy number alterations (CNAs) can cause over expression of oncogenes and loss of tumor suppressor genes in tumorigenesis. Recent development of SNP array technology has facilitated studies on copy number changes at a genome-wide scale, with high resolution. Quantitative analysis of somatic CNAs on genes has found broad applications in cancer research. Most tumors exhibit genomic instability at chromosome scale as a result of dynamically accumulated genomic mutations during the course of tumor progression. Such higher level cancer genomic characteristics cannot be effectively captured by the analysis of individual genes. We introduced two definitions of chromosome instability (CIN) index to mathematically and quantitatively characterize genome-wide genomic instability. The proposed CIN indices are derived from detected CNAs using circular binary segmentation and wavelet transform, which calculates a score based on both the amplitude and frequency of the copy number changes. We generated CIN indices on ovarian cancer subtypes' copy number data and used them as features to train a SVM classifier. The experimental results show promising and high classification accuracy estimated through cross-validations. Additional survival analysis is constructed on the extracted CIN scores from TCGA ovarian cancer dataset and showed considerable correlation between CIN scores and various events and severity in ovarian cancer development. Currently our methods have been integrated into G-DOC. We expect these newly defined CINs to be predictors in tumors subtype diagnosis and to be a useful tool in cancer research.

Degree

thesis:*
Name thesis:degree_name
Master of Science
Level thesis:degree_level
masters
Discipline thesis:degree_discipline
Electrical and Computer Engineering
Department dc:contributor.department
Electrical and Computer Engineering
Grantor dc:publisher
Virginia Tech
Year dc:date.issued
2011

Author and committee

dc:creator, dc:contributor.*
Author dc:creator
  • Song, Lei
Chair dc:contributor.committeechair
  • Wang, Yue J.
Committee members dc:contributor.committeemember
  • Lu, Chang-Tien
  • Xuan, Jianhua

Subjects

dc:subject × 5

Rights

dc:rights
Statement dc:rights
  • In Copyright

Identifiers

dc:identifier.*
Dc Identifier Other
etd-05092011-161650
OAI identifier oai:identifier
oai:vtechworks.lib.vt.edu:10919/32462

Chain of custody

source
Harvested from
Virginia Tech
Base URL
vtechworks.lib.vt.edu/oai/request
Last updated
2026-07-22
Source record
OAI-PMH GetRecord
citation

Song, Lei. Computational Analysis of Genome-Wide DNA Copy Number Changes. masters thesis, Virginia Tech, 2011. http://hdl.handle.net/10919/32462