基因體信息資源與應用

PART I - Biological sequence resources PART II - Disease gene finding and genetic testing PART III - Expression data analysis

新世代全基因體高通量技術的問世,改變了現代生物醫學的研究,使得人類對於各種遺傳疾病的分子機制有了更深入及確切的見解。特別是關於癌症的基因體變異,因為各種新世代定序技術的廣泛運用,研究人員已找到更多的造成癌症的driver mutations以及fusion gene;此外,近年來還有更有許多突破性的發現,如chromothripsis、chromoplexy等,為「癌症是一種基因體變異所造成的疾病」的理論,提供了更多的佐證。在不久的未來,第三代定序方法將被廣為運用,很有可能可以使得我們在更短的時間之內,得到更為豐富的實驗結果,因此,如何更有效率的利用基因體資訊,從其中萃取出造成生物表現型變異之確切原因,是生醫研究甚至是生技產業應用上最重要的課題之一。 想要利用public-domain的各種電腦軟體分析工具來進行基因體相關資料之解讀,來加速生物醫學的研究,對入門者會有數個困難,其一是不知哪一個工具是最合適的,其二是不知哪一個資料庫所提供的資料最為可靠完整,其三是不明瞭不同工具及資源之間之互補性。因此本課程的設計理念,是針對已具有充分的生物化學及分子生物學的學生,介紹這些網際網路public-domain資源的特性,讓學生了解基因體相關資料分析之應有操作理念及其原理。本課程強調如何「分析」與「解讀」處理好的數據,找出有意義的變異,並探索這些變異與生命現象間的關係,以應用到各個生物醫學領域。The advent of the new generation of high-throughput technology of whole genome has changed the research of modern biomedicine, and has provided more in-depth insights into the molecular mechanisms of various genetic diseases. Especially with regard to the genetic mutation of cancer, because of the extensive use of various new-generation sequencing technologies, researchers have found more driver mutations and fusion genes that cause cancer; in addition, there have been many breakthrough discoveries in recent years, such as chromothripsis, chromoplexy, etc., providing more evidence for the theory that "cancer is a disease caused by genetic variants". In the near future, the third-generation sequencing method will be widely used, which is likely to enable us to obtain more abundant experimental results in a shorter time. Therefore, how to use genome information more efficiently is one of the most important topics in biomedical research and even the application of biotechnology industry to extract the exact cause of biological phenotypic variation. There are several challenges for beginners, 1) which tool is the most suitable, 2) which database provides the most reliable and complete information, 3) the complementarity between different tools and resources. Therefore, the design concept of this course is to introduce the characteristics of these Internet public-domain resources to students who already have sufficient biochemistry and molecular biology, so that students can understand the operating concepts and principles of genetic data analysis. . This course emphasizes how to "analyze" and "interpret" processed data, find meaningful variations, and explore the relationship between these variations and life phenomena, and apply them to various biomedical fields.

期中考/報告 50%, 期末考/報告 50%mid-term exam 50%, final exam 50%

教科書: 自編講義 參考書籍: (1) A Primer of Genome Science, 3rd ed., by Greg Gibson & Spencer V. Muse. 2009. (2) Introduction to Genomics, 2nd ed., by Arthur Lesk, 2011 (3) Developing Bioinformatics Computer Skills, by Cynthia Gibas, Per Jambeck. O'Reilly Media, Inc., 2001