| 研究生: |
林盈樺 Lin, Ying-Hua |
|---|---|
| 論文名稱: |
次世代基因定序之鹼基游移現象及其效果 The Shift Phenomenon of Bases for Next Generation Sequence and its Effect |
| 指導教授: |
詹世煌
Chan, Shih-Huang |
| 學位類別: |
碩士 Master |
| 系所名稱: |
管理學院 - 統計學系 Department of Statistics |
| 論文出版年: | 2014 |
| 畢業學年度: | 102 |
| 語文別: | 中文 |
| 論文頁數: | 32 |
| 中文關鍵詞: | 基因定序 、統計圖形比對 、環狀樣板 |
| 外文關鍵詞: | genome sequencing, pattern recognition, ring coding techniques |
| 相關次數: | 點閱:129 下載:1 |
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自1990年開始啟動由美國能源部(DOE)及國家衛生院(NIH)提出之人類基因體研究計畫(Human Genome Project, HGP)後,有關基因體的研究就開始盛行,此研究的主要目的在探討人類之基因體組成,提供醫學與健康科學等研究的新方向。在基因體定序中,鹼基判定的準確性會影響到基因組裝的品質,因此提高鹼基判定的可靠性以降低預測錯誤率顯得特別重要,但大部分的基因體研究都著重在基因的組裝,鹼基判定的準確性卻不多見。
在2007年,Illumina公司整合了次世代基因定序平台,並以資訊軟體系統配對出完整的基因定序,Illumina認為在第四週期後基因模板上的鹼基位置是固定的,惟李佩芳(2012)利用單點的方式發現鹼基位置並不固定,而且鹼基的位置可能有集體游移的現象。邵筠芬(2013)利用鹼基模板空白處以環狀編碼觀念證明了鹼基的確具有游移的特性。在本文中,我們利用鹼基的存在位置標示叢集,以環狀編碼的觀念取出鹼基叢集的特徵,使用圖形比對的方法來驗證鹼基的游移性,更進一步找出鹼基的游移方向、趨勢。模擬結果說明此標記圖形方法對於鹼基游移的方向性具有一定的辨識能力。我們將此法套用在次世代序列的資料分析上,證實了每個週期基因序列的鹼基位置並不固定且有集體漂移的現象,飄移方向有相同趨勢。
Since Department of Energy (DOE) and National Institutes of Health (NIH) of the United States set up the Human Genome Project (HGP) in 1990, studies on genome analysis become more popular. The main purpose of the research HGP is to investigate the composition of the human genome, providing new research directions to medical, health science and other related disciplines. In DNA sequencing research, accuracy of base determination affects the quality of gene assembly, thus in turn improves the reliability of the determined base and is capable of reducing the error rate of prediction. However, most studies focus on the accuracy of assembling reads, few attention is paid to the accuracy of the base.
Illumina, one of the leading companies in DNA sequencing, supposed the base’s position on the genome plate is fixed, but Li(2012), observing the positions of a single base in different cycles, claimed that it is not the case. Shao(2013) used an rather large area which does not contain bases to examine the stability of the base position of base calling. She showed that the base called does have wavering characteristics. In this paper, we located the cluster position of bases from NGS data made by Illumina and use ring coding techniques(2003) to show that the positions of genome sequence on genome plate is not fixed, and its mobility is collective. We also found out the direction and trend of the wavering bases. Simulation study shows that the algorithm developed is capable of detecting the pattern of the wavering trend.
中文
[1]李佩芳(2012),「次世代基因定序之基因序列的鹼基判定」,國立成功大學統計學研究所碩士論文 。
[2]邵筠芬(2013),「次世代基因定序之圖形比對」,國立成功大學統計學研究所碩士論文 。
[3]陳中庸與蔡世峰(2003),「基因體定序之現況與展望」,載於張明富(主編),後基因體時代之生物技術,205-213。
[4]陳柔安(2014),「次世代基因定序之品質評估」,國立成功大學統計學研究所碩士論文 。
[5]彭國軒(2003),「快速物件辨認與定位-環狀樣板比對」,國立清華大學動力機械工程學研究所碩士論文。
英文
[1]Jain, A. K., Duin, R.P.W. and Mao, J.C.(2000),“Statistical pattern recognition: A review”, IEEE Transactions on Pattern Analysis and Machine Intelligence. Vol.22, No.1, 4-37.