Physical Sciences and Mathematics Commons^™

New Algorithms For Structural Variation Detection By De Novo Genome Assembly, Ehsan Haghshenas

Electronic Thesis and Dissertation Repository

Structural variations (SVs) are changes in the human genome that are reported in several studies to be associated with some diseases. Therefore, designing methods to find these types of variations would help us for early detection of those diseases and utilizing new treatment methods such as personalized medicine. Currently computational methods are applied to find structural variations from short reads obtained by Next Generation Sequencing (NGS) platforms. Usually each method has more power in finding particular types or sizes of SVs and limitations in finding others. Thus, still new approaches and methods are on demand for SV discovery.

In this …