Course: Introduction to Biomedical Informatics

Spring semester, 2014

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

3 credits

Web site: http://www.csie.ntu.edu.tw/~kmchao/bioinformatics14spr

Instructor: Kun-Mao Chao (»¯©[­Z)

Teaching assistant: Chia-Jung Chang (±i®aºa; ) & Kevin Lin (ªL¬f§Ê; )
[TA's office hours: 3:00-5:00 PM, Tuesdays; Venue: R432]

 

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

 

Classmates: I  II  III  IV  V  VI  VII

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Coursework:

    Homework assignments and Class participation (10%)

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

        1. Midterm #1: March 31, 2014  partial_solutions; grading criteria; grade_statistics

        2. Midterm #2: May 5, 2014  grade_statistics

    Oral presentation of selected papers/projects (20%)

 

Topics:

Supporting materials:

    A Whirlwind Tour of Biomedical Informatics  Survey  [2/17/2014] 

    Selected Videos [2/24/2014]

    NCBI [2/24/2014]

    Basic Algorithmic Strategies [3/3/2014]

              -- Basic Algorithmic Strategies [3/3/2014]

    Sequence Alignment [3/3/2014; 3/10/2014]

-- Global Alignment [3/3/2014; 3/10/2014]

-- Local Alignment [3/10/2014]

-- Various Scoring Schemes [3/10/2014]

-- An affine-gap-penalty example [3/10/2014]

-- Scoring scheme examples [3/10/2014]

-- 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¡V53.

-- Smith, Temple F.; and Waterman, Michael S. (1981). "Identification of Common Molecular Subsequences". Journal of Molecular Biology 147: 195¡V197.

-- 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. 14 "Local Alignment")  [3/10/2014; 3/17/2014]

    Suboptimal Alignments (Methods 1-5) [3/17/2014; 3/24/2014]

-- Space-Saving Strategies (pdf) [3/10/2014; 3/17/2014; 3/24/2014]

-- 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.

-- Chao, K.-M. and Miller, W., 1995, Linear-Space Algorithms that Build Local Alignments from Fragments, Algorithmica, 13: 106-134.

    Multiple Sequence Alignment (Up to p. 13 "Affine Gaps") [3/24/2014]

    -- Multiple Sequence Alignment (pdf) [3/24/2014]

Homology Search []

-- Homology Search Tools (pdf) []

R: An Introduction; More Details (by Chia-Jung Chang) [4/7/2014]

   Genome Reconstruction by Phillip E. C. Compeau and Pavel A. Pevzner [4/14/2014]

            pdf (the first one in the link), ppt (the third one in the link)
(For ppt, you may skip pages 125-175 & 301-350.)

    -- B(2,3) [4/14/2014]

    -- Eulerian Tours by Christos H. Papadimitriou & Umesh Vazirani [4/14/2014]
(Exchange 10 and 01 of the left figure on Page 4)

    -- An example for fragment assembly as an Eulerian cycle problem [4/28/2014]

    Pattern Identification in a Haplotype Block (ppt, pdf) [4/21/2014]

              -- An example [4/28/2014]

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    Haplotype Inference (ppt, pdf) [4/21/2014]
    (Read the problem formulation on pp. 1262-1263 of the pdf file)

    -- Some other ways of formulation [4/28/2014]

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HLA Simulation (by Chia-Jung Chang) [4/28/2014]

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Class presentations:

1.      The expected number of team members: <8;

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.

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Selected papers for presentation:

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

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May 12, 2014

  1. David Sankoff, "The early introduction of dynamic programming into computational biology," Bioinformatics (2000) 16 (1): 41-47.  [Slides]
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  2. BLAST  [Slides]

  3. LIFE SCIENCE TECHNOLOGIES: The Digital PCR Revolution [Slides]
    Jeffrey M. Perkel, Science 11 April 2014: 212-214.
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May 19, 2014

  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)
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  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
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  3. From patients to partners: participant-centric initiatives in biomedical research
    Jane Kaye et al.  Nature Reviews Genetics 13, 371-376 (May 2012)
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  4. Electronic Medical Records as a Tool in Clinical Pharmacology: Opportunities and Challenges  [Slides]
    D M Roden, H Xu, J C Denny & R A Wilke  Clinical Pharmacology & Therapeutics 91, 1083-1086 (2012)
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  5. Biology: The big challenges of big data
    Vivien Marx, Nature 498, 255-260 (2013)
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May 26, 2014

  1. A mesoscale connectome of the mouse brain  [Slides]
    Seung Wook Oh et al., Nature doi:10.1038/nature13186 (2014)
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  2. Genome 10K (UCSC)
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  3. Origin and Spread of de Novo Genes in Drosophila melanogaster Populations  [Slides]
    Li Zhao, Perot Saelao, Corbin D. Jones, and David J. Begun, Science 14 February 2014: 769-772.
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  16. Innovative bioinformatic approaches for developing peptide-based vaccines against hypervariable viruses
        Danylo Sirskyj, Francisco Diaz-Mitoma, Ashkan Golshani, Ashok Kumar and Ali Azizi
        Immunology and Cell Biology (2011) 89, 81¡V89
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June 9, 2014

  1. http://www.nytimes.com/2014/04/24/science/researchers-see-new-importance-for-y-chromosome.html and two Nature papers (April, 2014) on Y chromosome
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  2. Are Bats Spreading Ebola Across Sub-Saharan Africa?  [Slides]
    Gretchen Vogel, Science 11 April 2014: 140.
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  3. DNA Sequencers Still Waiting for the Nanopore Revolution
    Elizabeth Pennisi, Science 21 Feb. 2014: 829-830.
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  4. Polyhedra Self-Assembled from DNA Tripods and Characterized with 3D DNA-PAINT
    Ryosuke Iinuma, Yonggang Ke, Ralf Jungmann, Thomas Schlichthaerle, Johannes B. Woehrstein, and Peng Yin, Science 4 April 2014: 65-69.
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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
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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
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    and in particular the following research articles:
    http://www.nature.com/nature/journal/v437/n7063/index.html#Article
Bibliography links: