Biomedical Sciences ETDs

Mingyan Xu

Publication Date

7-1-2013

Abstract

Based on the development of current status of Next-Generation Sequencing technologies (NGS), I developed several technologies to improve NGS technologies and exampled to apply the NGS technology to biomedical sciences. In the first chapter, I overviewed most of the NGS technologies, described the characteristics of the technologies, and compared the pits and falls, as well as the applications. Based on the current development status, I developed Dual-Primer emulsion PCR (DPePCR) to simplify the library preparation and elongate the read length, and the details were illustrated in the chapter 2. To minimize the sequencing feature/template and improve sequencing throughput, I developed Rolony sequencing by Synthesis, which was elaborated in chapter 3. To utilize the NGS technologies on biological researches, Haplotype-resolved sequencing was developed to sequence haplotype genome in chapter 4. Haplotype-resolved sequencing technology provided haplotype information, which is very important for fully understanding human genome, completely describing genetic diversities, and identifying the association between genetic variations and diseases. In one word, this dissertation developed several sequencing technologies that improved the next-generation sequencing technologies, and will potentially contribute to biomedical applications.

Keywords

Next Generation Sequencing, Polony sequencing, Rolony Sequencing, Haplotype-resolved Sequencing, Sequencing by Synthesis, Sequencing by Ligation

Sponsors

NHGRI $1000 Genome and Polony Sequencing

Document Type

Dissertation

Language

English

Degree Name

Biomedical Sciences

Level of Degree

Doctoral

Department Name

Biomedical Sciences Graduate Program

First Committee Member (Chair)

Ness, Soctt

Second Committee Member

Thompson, Todd

Third Committee Member

Hartley, Rebecca

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