| Summary: | 碩士 === 國立成功大學 === 統計學系 === 102 === With the development of DNA chip technology, the researchers found the presence of polymorphism which length more than 1 kb but less than 3 Mb of DNA segment in the human genome, polymorphism including insertion, deletion, duplication. This is called gene copy number variation. Since the frequency of occurrence is much higher than the variation of chromosome structure and the total number of nucleotides in the genome to cover much more than a single nucleotide polymorphism in total. Studies suggest that gene copy number variation may be related to gene expression and regulation specific regions of the genome and or affecting the development of genome evolution and molecular systems.
In this study, read count data of the gene sequence is provided by Professor H. Sunny Sun from the Institute of Molecular Medicine, National Cheng Kung University Medical College, and Cancer Research Center. The subjects were from the Taiwan general population sample of exon sequences. Data from the 12 subjects and each subject has about 19 million segments of exon sequence mapping, this study will propose some simple methods to identify gene duplication and variance, and use statistical simulation to compare these methods and assess advantages and disadvantages of different methods.
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