Paired End Transcriptome Assembly and Genomic Variants Management for Next Generation Sequencing Data

Abstract

Next generation sequencing (NGS) techniques accelerate the genomic and transcriptomic studies by providing high throughput, low cost sequencing. However, the overwhelming sequencing data poses demanding challenges for data analysis and management. In this dissertation, we discuss about two methods that process large-scale NGS data, i.e., PETA (Paired End Transcriptome Assembler) and UASIS (Universal Automated SNP Identification System). Both of them are practical and powerful tools to provide enhanced NGS services. PETA is a powerful de novo transcriptome assembler to reconstruct full set of transcripome in the cell. And UASIS integrates and standardizes various SNP nomenclatures to provide a uniform view.