Bilkent University
Department of Computer Engineering


Structural Variation Discovery in Repeat- and Duplication-Rich Regions


Emre Doğru
MS Student
Computer Engineering Department
Bilkent University

With the advancing technology in genome sequencing and analysis, it has become evident that the structural variations are the main source of alteration in human genome. Despite their significance in understanding disease susceptibility, there is no algorithm yet to find all types and sizes of structural variations at once. Structural variation discovery remained problematic since they often overlap with the segmental duplications, nearly identical segments of DNA that appear more than once in the genome. In this study, our aim is to discover structural variations in repeated or duplication-rich regions by utilizing the singly unique nucleotides (SUN) that distinguish copies from each other in the sequence alignment of the duplicated regions.


DATE: 23 October, 2017, Monday @ 15:40