Discovering and Genotyping Structural Variations from Next-Generation Sequencing Data

Beyond single-nucleotide polymorphisms, genetic variation between individuals also takes the form larger changes, called structural variations (SVs). Types of SVs include deletions, insertions, duplications, translocations and inversions. In this talk, I will discuss several types of SVs in detail and explain a number of approaches to detect such events from next-generation sequencing data. In addition to discovering SVs, the talk will also briefly introduce statistical methods for genotyping them