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Discovery And Visual Analysis of Tracts of Homozygosity In The Human Genome

Reber, Sean Cameron
http://rave.ohiolink.edu/etdc/view?acc_num=kent1365617689

Abstract Details

2013, MS, Kent State University, College of Arts and Sciences / Department of Computer Science.
I propose a new visual analytics system designed for genetic researchers to study genome-wide homozygosity regions. Finding significant tracts of homozygosity (TOH) using single nucleotide polymorphisms (SNPs) from a large-scale genome data set can contribute to the discovery of genetic factors related to human diseases. The proposed system helps users to visually examine TOH clusters computed from the underlying patient data, lending itself a convenient and powerful tool for knowledge discovery. I've designed and implement the TOH clustering algorithm based on repeated binary spectral clustering. A hierarchy of clusters is created and represented by a TOH cluster (TOHC) tree. Researchers can investigate the clusters with a special interactive widget, namely navigation rings, which is integrated with a visual cluster explorer. Statistical association study and NCBI genome map viewer are also incorporated into the system. The usability and performance of the system is illustrated with a clinical data set of human cancers.
Ye Zhao, Dr. (Advisor)
Arden Ruttan, Dr. (Committee Member)
C.C. Lu, Dr. (Committee Member)
35 p.
Bioinformatics; Computer Science
Genome; Tracts of Homozygosity; Single Nucleotide Polymorphism; Genomic Risk; Association Study; Visual Analytics; Data Mining; Bioinformatics

Recommended Citations

Citations

  • Reber, S. C. (2013). Discovery And Visual Analysis of Tracts of Homozygosity In The Human Genome [Master's thesis, Kent State University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=kent1365617689

    APA Style (7th edition)

  • Reber, Sean. Discovery And Visual Analysis of Tracts of Homozygosity In The Human Genome. 2013. Kent State University, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=kent1365617689.

    MLA Style (8th edition)

  • Reber, Sean. "Discovery And Visual Analysis of Tracts of Homozygosity In The Human Genome." Master's thesis, Kent State University, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=kent1365617689

    Chicago Manual of Style (17th edition)

kent1365617689
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© 2013, all rights reserved.
This open access ETD is published by Kent State University and OhioLINK.