| Summary: | 碩士 === 國立交通大學 === 統計學研究所 === 102 === Copy Number Variations(CNV) are structural rearrangements of the genome like deletions, duplications, inversions, and translocations. Typically, CNVs are detected by experimental tools such as array CGH. With the advance of next generation sequencing (NGS) technology, NGS have been widely used in the detection of CNVs. To handle big data from NGS, new computational methods must be developed. In our research, we use five common read-depth based software to analyze whole genome sequencing data from the UK10K project. We make a process analysis, compare the differences and observe results. We also make a process pipeline for CNV detection in NGS data, which helps us to see how it works.
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