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Theses & Dissertations

Next Generation Sequencing

Publication Year

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Full-Text Articles in Bioinformatics

Focus: A Graph Approach For Data-Mining And Domain-Specific Assembly Of Next Generation Sequencing Data, Julia Sommer Dec 2017

Focus: A Graph Approach For Data-Mining And Domain-Specific Assembly Of Next Generation Sequencing Data, Julia Sommer

Theses & Dissertations

Next Generation Sequencing (NGS) has emerged as a key technology leading to revolutionary breakthroughs in numerous biomedical research areas. These technologies produce millions to billions of short DNA reads that represent a small fraction of the original target DNA sequence. These short reads contain little information individually but are produced at a high coverage of the original sequence such that many reads overlap. Overlap relationships allow for the reads to be linearly ordered and merged by computational programs called assemblers into long stretches of contiguous sequence called contigs that can be used for research applications. Although the assembly of the …


Chimerscope: A Novel Alignment-Free Algorithm For Fusion Gene Prediction Using Paired-End Short Reads, You Li Dec 2016

Chimerscope: A Novel Alignment-Free Algorithm For Fusion Gene Prediction Using Paired-End Short Reads, You Li

Theses & Dissertations

Fusion genes are those that result from the fusion of two or more genes, and they are typically generated due to the perturbations in the genome structure in cancer cells. In turn, fusion genes can contribute to tumor formation and progression by promoting the expression of an oncogene, deregulation of a tumor-suppressor, or producing much more active abnormal proteins. More importantly, oncogenic fusion genes are specifically expressed in the tumor cells, which provide enormous diagnostic and therapeutic advantages for cancer treatment. With the development of next-generation sequencing (NGS) technology, RNA-Seq becomes increasingly popular for transcriptomic study because of its high …