Course: Introduction to Biomedical Informatics

Spring semester, 2013

9:10 - 12:10 Monday, 101 CSIE Building.

3 credits

Web site: http://www.csie.ntu.edu.tw/~kmchao/bioinformatics13spr

Instructor: Kun-Mao Chao (趙坤茂)

Teaching assistant: Chia-Jung Chang (張家榮) & Wu-Lung R. Yang (楊伍隆)
[TA's office hours: 11:00 - 12:00; 15:00 - 16:00 Tuesdays]

 

Prerequisites: Background in biology and informatics is welcome but not required for taking this course.

 

Classmates: I  II  III  IV  V  VI  VII

 

課程問卷:http://ppt.cc/NgFz

 

Coursework:

    Homework assignments and Class participation (10%)

    Two midterm exams (70%; 35% each):

        1. Midterm #1: April 1, 2013  Scoreboard

        2. Midterm #2: May 13, 2013  Scoreboard

    Oral presentation of selected papers/projects (20%)

 

Topics:

Supporting materials:

    A Whirlwind Tour of Biomedical Informatics [2/18/2013]  Survey

    Selected Videos [2/25/2013] (Lists in HTML format)

    Sequence Alignment [3/4/2013; 3/11/2013]

 -- Global Alignment [3/4/2013]

 -- Local Alignment [3/4/2013]

 -- Various Scoring Schemes [3/4/2013; 3/11/2013]

 -- An affine-gap-penalty example [3/4/2013; 3/11/2013]

 -- Scoring scheme examples  [3/11/2013]

 -- Needleman, Saul B.; and Wunsch, Christian D. (1970). "A general method applicable to the search for similarities in the amino acid sequence of two proteins". Journal of Molecular Biology 48 (3): 443–53.

 -- Smith, Temple F.; and Waterman, Michael S. (1981). "Identification of Common Molecular Subsequences". Journal of Molecular Biology 147: 195–197.

 -- Gotoh, Osamu: An improved algorithm for matching biological sequences. In: Journal of Molecular Biology. 162, 1982, S. 705-708 (PDF, 206 KB).

    Space-Saving Strategies (Up to p. 13 "Local Alignment"; more about local alignment) [3/11/2013; 3/18/2013]

    Suboptimal Alignments (Methods 1-5) [3/18/2013]

-- Space-Saving Strategies (pdf) [3/11/2013]

-- Eugene Myers and Webb Miller, "Optimal Alignments in Linear Space," CABIOS (Bioinformatics) 9: 169-176, 1988.

-- Chao, K. -M., Pearson, W. R. and Miller, W., 1992, Aligning Two Sequences within a Specified Diagonal Band, Computer Applications in the Biosciences (CABIOS, now Bioinformatics), 8: 481-487.

-- Chao, K.-M., Hardison, R. C. and Miller, W., 1993, Constrained Sequence Alignment, Bulletin of Mathematical Biology, 55: 503-524.

-- Chao, K.-M., Hardison, R. C. and Miller, W., 1993, Locating Well-Conserved Regions within a Pairwise Alignment, Computer Applications in the Biosciences (CABIOS, now Bioinformatics), 9: 387-396.

-- Chao, K. -M., 1994, Computing All Suboptimal Alignments in Linear Space, Combinatorial Pattern Matching '94, Lecture Notes in Computer Science 807, 31-42, California, USA.

-- Chao, K. -M., Hardison R. C. and Miller, W., 1994, Recent Developments in Linear-Space Alignment Methods: a Survey, Journal of Computational Biology, 1: 271-291.

    Multiple Sequence Alignment (Up to p. 13 "Affine Gaps") [3/18/2013]

    -- Multiple Sequence Alignment (pdf) [3/18/2013]

R (by Chia-Jung Chang) [3/25/2013]

Homology Search [4/8/2013; 4/15/2013]

-- Homology Search Tools (pdf) [4/8/2013; 4/15/2013]

   Genome Reconstruction (pdf, ppt) by Phillip E. C. Compeau and Pavel A. Pevzner [4/22/2013]

            (For ppt, you may skip pages 125-175 & 301-350.)

    -- Eulerian Tours by Christos H. Papadimitriou & Umesh Vazirani [4/22/2013]
(Exchange 10 and 01 of the left figure on Page 4)

    Pattern Identification in a Haplotype Block (ppt, pdf) [4/29/2013]

    Haplotype Inference (ppt, pdf) [4/29/2013]

    -- Some other ways of formulation [4/29/2013]

    Q&A [5/6/2013]

 

    Connectivity Map (by Roger Yang) [5/6/2013]

 

Class presentations:

1.      The expected number of team members: ~6;

2.      Each member is required to present in turn [about 150/(the number of speakers on the same day) minutes each];

3.      Revised slides should be sent to me within one week after the presentation. Please compress your figures.

4.      Questions in class are always welcome.

 

Selected papers for presentation:

(You may access these selected articles using computers with NTU IP addresses.)

 

May 20, 2013

  1. Will Computers Crash Genomics?  Slides
    Elizabeth Pennisi   Science 11 February 2011: 666-668.
    蘇煒迪  蘇醒宇  吳卓翰  陳維  黃博強  李侑穎  林彥伯
     
  2. On the Future of Genomic Data  Slides
    Scott D. Kahn   Science 11 February 2011: 728-729.
    陳亭霓  葉顏偉  莊允心
     
  3. Integrating Genomes  Slides
    D. R. Zerbino, B. Paten, and D. Haussler  Science 13 April 2012: 179-182.
    劉恕維  林修竹  李宗燁  洪士堯  廖奎達  田耕豪

May 27, 2013

  1. Big data: The future of biocuration  Slides
    Doug Howe et al.  Nature. 2008 September 4; 455(7209): 47–50.
    林柏廷  李揚  游子毅  林潔  顏妤安  林珮瑜  汪志遠
     
  2. DNA nanotechnology: Geometric sorting boards  Slides
    David W. Grainger  Nature Nanotechnology 4, 543 - 544 (2009)
    邵明偉  謝政佑  呂昶諄  許祐程  梁閎鈞  魏偉峰  吳柏均  林雨澤
     
  3. From patients to partners: participant-centric initiatives in biomedical research  Slides
    Jane Kaye et al.  Nature Reviews Genetics 13, 371-376 (May 2012)
    黃子豪  林婷涵  李承翰  楊應甲  楊沛東  何亮融  吳瑀涵

June 3, 2013

  1. Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants  Slides
    Alon Keinan and Andrew G. Clark  Science 11 May 2012: Vol. 336 no. 6082 pp. 740-743
    許芳瑋  林廷儒  謝弘柏  劉耘非  黃怡君  黃貿鍾  陳慶安  梁維元

(Ind.) Common Cold, Uncommon Variation  Slides
          Gregory A. Poland and Michael A. Barry  N Engl J Med 2009; 360:2245-224
          楊謹榕

(Ind.) Full-length transcriptome assembly from RNA-seq data without a reference genome.  Slides
          Manfred G. Grabherr et al. Nature Biotechnology 29, 644–652 (May 2011)
          Han Lin

(Ind.) Transgenics: A new breed
          Daniel Cressey 2 MAY 2013 | VOL 497 | NATURE | 27
          薛依宸

  1. Repetitive DNA and next-generation sequencing: computational challenges and solutions
    Todd J. Treangen and Steven L. Salzberg, Nature Reviews Genetics 13, 36-46 (January 2012)
  2. Multidimensional Optimality of Microbial Metabolism
    Robert Schuetz, Nicola Zamboni, Mattia Zampieri, Matthias Heinemann, Uwe Sauer  Science 4 May 2012: Vol. 336 no. 6081 pp. 601-604

June 10, 2013

  1. Discovery from data repositories  Slides
    H Craig Mak  Nature Biotechnology 29, 46–47 (2011)
    吳柏誠  朱唐廷  李峻霆  葉騰遠  陳孝銓  謝煒騏  徐振庭
     
  2. Electronic Medical Records as a Tool in Clinical Pharmacology: Opportunities and Challenges
    D M Roden, H Xu, J C Denny & R A Wilke  Clinical Pharmacology & Therapeutics 91, 1083-1086 (2012)
    吳一德  路本庭  羅新知  廖偉傑  任國瑞
     
  3. Citizen science: Amateur experts  Slides
    Trisha Gura  Nature 496, 259-261 (2013)
    張乃文  陳琤  賴家欽
References (Recommended, but not required):
1. Algorithms on Strings, Trees, and Sequences: Computer Science and Computational Biology, by Dan Gusfield (1997)
2. Biological Sequence Analysis, by Richard Durbin et al. (1998)
3. Computational Molecular Biology: An Algorithmic Approach, by Pavel Pevzner (2000)
4. An Introduction to Bioinformatics Algorithms, by Neil C. Jones and Pavel Pevzner (2004)
5. Sequence Comparison: Theory and Methods,” by Chao, K.-M. and Zhang, L. (2009)
6. Bioinformatics for Biologists, edited by Pavel Pevzner and Ron Shamir (2011)
7. Related journal and conference papers
 
Useful links:
  1. NCBI    
  2. NCBI Education
  3. Molecular Biology for Computer Scientists by Lawrence Hunter
  4.  Developing Bioinformatics Computer Skills by Cynthia Gibas & Per Jambeck
  5. Sense from Sequences: Stephen F. Altschul on Bettering BLAST , July/August 2000 (A story about BLAST)
  6. Initial sequencing and analysis of the human genome (15 February 2001 Nature 409, 860 - 921 (2001)
  7.  The Sequence of the Human Genome (Science 2001 February 16; 291: 1304-1351)
  8. An evaluation of the draft human genome sequence (Nature Genetics 29, 88 - 91 (01 Sep 2001) Letters)
  9.  Initial sequencing and comparative analysis of the mouse genome (Nature 420, 520 - 562 (2002))
  10. The UCSC Genome Browser
  11. The Chimpanzee Genome (Nature; Sept. 1, 2005)
  12. The Chimpanzee Sequencing and Analysis Consortium25, "Initial sequence of the chimpanzee genome and comparison with the human genome," Nature 437, 69-87 (1 September 2005) | doi: 10.1038/nature04072
  13. The HapMap Project (Nature; Oct. 27, 2005)
    Please visit:
    http://www.nature.com/nature/journal/v437/n7063/index.html
     
    and in particular the following research articles:
    http://www.nature.com/nature/journal/v437/n7063/index.html#Article
Bibliography links: