| Summary: | 碩士 === 國立臺灣大學 === 生醫電子與資訊學研究所 === 107 === Copy number variation (CNV) is a region with structural variation in which the genomic copy numbers (CN) differs when compared to the reference genome. It is classically defined as a genomic segment that consists of at least 1000 base pairs of sequence alterations. In human genome, CNV may cause genomic imbalance by regulating gene expression levels through dosage effect and has been associated with multiple disease, including cancer. Thus far, many researchers have studied the relationship between cancer and CNV, providing intriguing insights into CNV roles as cancer biomarker. Despite an intensive increase in the amount of related biological validation experiments, the distinct lack of an integrated resource that supports highly-efficient CNV research has drive our study to construct a comprehensive online database to simplify the data mining, retrieval, and analysis processes of CNV investigations. In this study, we integrate the CNV profiles of healthy populations, cancer patients, and cancer cell lines from various sources. The baseline CNV frequency of 22155 genes serving as comparisons benchmark were established, and we constructed the CNV profile of 70 types of human cancer. We further demonstrate the potential application of this system by analyzing CNV data from 542 lung adenocarcinoma patients. With the provision of an easy query and online submission analysis schema, we expect that this database would serve as an important tool to assist researchers in uniformly processing, comparing and retrieving CNV data, as well as in facilitating the clinical interpretation and discoveries of significant CNVs.
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