Analysis of RNA and DNA sequencing data : Improved bioinformatics applications

• Main Author: Sigurgeirsson, Benjamín
• Format: Doctoral Thesis
• Language: English
• Published: KTH, Genteknologi 2016
• Subjects: RNA sequencing; exome sequencing; bioinformatics; gene expression; differential expression; variant calling
• Online Access: http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-184158; http://nbn-resolving.de/urn:isbn:978-91-7595-894-1

Massively parallel sequencing has rapidly revolutionized DNA and RNA research. Sample preparations are steadfastly advancing, sequencing costs have plummeted and throughput is ever growing. This progress has resulted in exponential growth in data generation with a corresponding demand for bioinformatic solutions. This thesis addresses methodological aspects of this sequencing revolution and applies it to selected biological topics. Papers I and II are technical in nature and concern sample preparation and data anal- ysis of RNA sequencing data. Paper I is focused on RNA degradation and paper II on generating strand specific RNA-seq libraries. Paper III and IV deal with current biological issues. In paper III, whole exomes of cancer patients undergoing chemotherapy are sequenced and their genetic variants associ- ated to their toxicity induced adverse drug reactions. In paper IV a comprehensive view of the gene expression of the endometrium is assessed from two time points of the menstrual cycle. Together these papers show relevant aspects of contemporary sequencing technologies and how it can be applied to diverse biological topics.  === <p>QC 20160329</p>