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研究生: 高崑閎
Kao, Kun-Hong
論文名稱: 次世代基因定序之對談矩陣與品質指標
Issues on Cross-Talk Matrix and Quality Measures for Second-Generation Sequence Call
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: 2011
畢業學年度: 99
語文別: 中文
論文頁數: 37
中文關鍵詞: 基因定序對談矩陣品質指標
外文關鍵詞: DNA assembly, cross-talk matrix, quality measure
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  • 到現在為止,基因定序的研究主要在基因序列的組合,對於序列中的四種鹼基G,A,T,C如何判定及評估判定的品質雖有論及,但不多見。由於精準的鹼基判定在之後的序列組合,多樣性的偵測以及下游的分析上扮演著非常重要的角色,因此一個能降低錯誤預測率且能提供高品質的鹼基判定方法便顯得非常重要。本論文提出一新的對談矩陣估計方法,並以此來進行鹼基判定,另外,亦提出一簡單易懂且利用統計分配概念的品質指標,以評估利用新舊方法判定鹼基品質上之差異。

    One important aspect of the Human Genome Research is to develop technologies for automated high-speed high throughput DNA sequences. A lot of efforts has been devoted to the assembly of the DNA sequence, very few of them, however, focuses on the prediction of the bases, not to mention the quality of the sequence call. As accurate base-calling plays a crucial role for assembly, polymorphism detection, and downstream analysis, a base-calling algorithm that is able to reduce the error rate in prediction, and hence upgrade the calling quality is a necessity. In this thesis, we develop an approach in estimating the cross-talk matrix for base-calling. Also, we combine the major features of the bases and develop an effective quality index in measuring the quality of the sequence call.

    目錄 目錄 I 表目錄 II 圖目錄 III 第一章 緒論 1 1.1 研究背景 1 1.2 研究動機與目的 1 第二章 文獻探討 3 2.1 基因定序 3 2.2 Cross-talk matrix 5 2.3 品質分數 8 第三章 Cross-talk matrix與品質指標 11 3.1 新的Cross-talk matrix估計方法 11 3.2 品質及指標之分配及製定 13 第四章 實例探討 16 4.1 資料 16 4.2 估計方法績效之比較 18 第五章 結論與未來研究方向 33 5.1 結論 33 5.2 未來研究方向 33 參考文獻 34

    1. Ewing, Hillier, Wendl and Green (1998). Base-calling of automated sequencer traces using Phred. I. Accuracy assessment. Genome Res. 1998 8: 186-194

    2. Ewing and Green (1998). Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res. 1998 8: 175-185

    3. Giddings, Drumley, Haker and Smith (1993). An adaptive, object oriented strategy for base calling in DNA sequence analysis. Nucleic Acids Res. 21: 4530–4540.

    4. Lawrence and Solovyev (1994). Assignment of position-specific error probability to primary DNA sequence data. Nucleic Acids Res. 22: 1272–1280.

    5. Li and Speed (1999). An estimate of the crosstalk matrix in four-dye fluorescence-based DNA sequencing. Electrophoresis. Jun;20(7):1433-42.

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