Algorithm for Structural Variant Detection
- J. Lin
- Friday 24 June 2022
2311 GJ Leiden
- Dr. W.A. Kosters
- Prof.dr. Kai Ye (Xi'an Jiaotong University)
Structural variant (SV), the hidden architecture of human genome, are critical for us to understand disease, evolution, etc. In this thesis, we introduce novel algorithms to detect and validate complex events, and assess the reproducibility of current SV detection pipelines for clinical and research settings. Chapter 1 begins with the introduction of DNA, various types of SVs and sequencing technologies. Then fundamental techniques or algorithms from computer science related to the thesis are briefly described. Pattern mining, graph and deep learning are applied to detect and characterize different type of complex SVs (CSVs) and they are all from computer science.
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