アブストラクト
| Date | 10:30am Jan 22, 2020 |
| Speaker | Wing-Kin Sung Professor, Department of Computer Science, School of Computing, National University of Singapore Senior Group Leader, Genome Institute of Singapore |
| Title | Finding deletion, tandem duplication and virus integration using high-throughput sequencing data |
| Abstract | Structural variations (SV) are large scale mutations in a genome; although less frequent than point mutations, due to their large size they are responsible for more heritable differences between individuals. In this talk, we discuss three classes of SVs: deletions, tandem duplications and virus integrations. They play important roles in many devastating genetic diseases. Since paired-end whole genome sequencing data has become widespread and affordable, reliably calling deletions, tandem duplications and virus integrations has been a major target in bioinformatics; unfortunately, the problem is far from being solved, since existing solutions often offer poor results when applied to real data. In this talk, we will disucss two methods SurVIndel and BatVI on detecting deletions, tandem duplications and virus integrations. We show that they outperform existing methods on both simulated and real biological datasets. |