Bioinformatics Commons^™

Algorithms And Tools For Computational Analysis Of Human Transcriptome Using Rna-Seq, Nan Deng

Wayne State University Dissertations

Alternative splicing plays a key role in regulating gene expression, and more than 90% of human genes are alternatively spliced through different types of alternative splicing. Dysregulated alternative splicing events have been linked to a number of human diseases. Recently, high-throughput RNA-Seq technologies have provided unprecedented opportunities to better characterize and understand transcriptomes, in particular useful for the detection of splicing variants between healthy and diseased human transcriptomes.

We have developed two novel algorithms and tools and a computational workflow to interrogate human transcriptomes between healthy and diseased conditions. The first is a read count-based Expectation-Maximization (EM) algorithm and tool, …