BYU Bookstore $ $ To provide practical experience in using computational approaches to address biological problems.

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1 BIO 365 Computational Biology Fall 2012 Section 001: 112 SWKT on T from 1:35 pm 2:50 pm Section 001: 112 SWKT on T from 1:35 pm 2:50 pm Name: Mark Clement Office Phone: (801) Office Location: 3364 TMCB clement@cs.byu.edu Name: Paul Bodily Office Phone: (801) Office Location: 2212 TMCB bioinformaticsta@gmail.com Office Hours: M,W,F 10:00 am to 11:00 am T, 3:00 pm to 4:00 pm Or By Appointment Course Information Description Many approaches to the diagnosis and treatment of human diseases rely on an analysis of DNA sequence data. Investigations into evolutionary relationships between species are often investigated through analyzing sequence data. e large volume of sequence data can only be analyzed with computers. is course will examine fundamental algorithms for obtaining this data and using it to draw conclusions about the underlying biological systems. Students will use the PERL language to write ORF finding, alignment and phylogenetic analysis code. We will also analyze secondary and tertiary structures during the course. Prerequisites CS 240 Material Item Vendor Price (new) Price (used) EXPLORING BIOINFORMATICS Required by C, ST CLAIR, ISBN: Learning Outcomes Overall Objective BYU Bookstore $ $ To provide practical experience in using computational approaches to address biological problems. General Computational Problems in Biology and the Approaches Describe general areas of computational problems in biology (alignment, estimation, tree searches, molecular modeling, gene prediction) and learn about existing computational approaches to these general problems. Computational Tools for Statistical Inference Learn basic computational tools for statistical inference (Bayesian, Maximum likelihood, Markov Chain Monte Carlo, Hidden Markov Chain) Alignment Problems Apply programming skills to alignment problems through the development of novel tools and software for alignment

2 Tree Searching Problems Apply programming skills to tree searching problems through the development of novel tools software Gene Prediction Problems Apply programming tools to gene prediction problems through the development of novel tools and software Database Coding Develop ability to use existing and write new database code to access and manipulate genetic data Grading Scale Grade Percent A 93% to 100% A 90% to 92% B+ 87% to 89% B 83% to 86% B 80% to 82% C+ 77% to 79% C 73% to 76% C 70% to 72% D+ 67% to 69% D 63% to 66% D 60% to 62% E 0% to 59% Grading Policy You are welcome to work with others in developing algorithms, but assignments you turn in should be written by you. Late Policy Late s and Labs lose 10% per day to a maximum of 50% credit. Late exams will not be accepted. Point Breakdown s s 10% #1 Nucleotide Bias 2.5% #2 Bioperl CGI 2.5% #4 Databases 2.5% #3 Alignment 2.5% Laboratories 70% Lab #1 Open Reading Frames 4.38% Lab #2 Genetic Algorithms 10.94% Lab #3 Protein Alignment 10.94% Lab #4 Fragment Assembly 10.94% Lab #5 Hidden Markov Models 10.94% Percent of Grade Lab #6 Secondary Structure Prediction 10.94%

3 s Percent of Grade Lab #7 Phylogeny CGI Script 10.94% Exams 20% Midterm Exam 10% Final Exam 10% Schedule Date Topics Reading s T Aug 28 Introduction to Perl 1.1, 1.2, 1.3, 1.4 Appendix A Installing Perl and Running a Perl Program Read "Tutorial #1 Perl" in Content/Course Materials Examples from class can be found at Aug 30 Perl CGI Appendix B Perl Syntax Read "Tutorial #2 Perl" in Content/Course Materials T 04 Open Reading Frames, Bioperl 2.1, 2.2, 2.3, 2.4 Bioperl Tutorial #1 Nucleotide Bias 06 Genetic Disease 2.5, 2.6, 2.7 #2 Bioperl CGI T 11 Perl Objects Read "Tutorial #3 Perl Objects" in Content/Course Materials Examples from class can be found at Lab #1 Open Reading Frames 13 Global Alignment 3.1, 3.2, 3.3, 3.4, 3.5 Tutorial #4 NeedlemanWunsch T 18 Genetic Algorithms Tutorial Genetic Algorithms Examples from class can be found at #3 Alignment Blast local alignment 3.6, 3.7 Tutorial #4 Blast T 25 Protein Alignment 4.1, 4.2, 4.3, 4.4 gnumap and snp calling Lab #2 Genetic Algorithms

4 Date Topics Reading s 27 Superposition Protein Bioinformatics Ch 9 T D structure visualization Sequence Assembly Pymol Tutorial Paul Bodily Tutorial on ADD Study 5.1, 5.2, 5.3, 5.4, 5.5, 5.6, 5.7 illumina, 454 Sequencing, Pacific Biosystems sequencing,cap Assembler,Replication,Transcription, Translation,PCR, PCR machines,cycle Sequencing, Helicos Sequencing, Pyro Sequencing T 09 Midterm Work Session Midterm Exam Opens 11 Using the Supercomputer Supercomputer Documentation putty download T 16 Assemblers Velvet Manual, Velvet Paper, 454 Manual Lab #3 Protein Alignment Midterm Exam Closes 18 Gene Prediction 6.1, 6.2, 6.3, 6.4 Lab #4 Fragment Assembly T 23 Hidden Markov Models Hidden Markov Tutorial 25 Training HMMs Genemark, ghmm tutorial, slides from class T 30 Lab Work Session 01 Secondary Structure Prediction 7.1, 7.2, 7.3, 7.4 Lab #5 Hidden Markov Models T 06 Neural Networks

5 Date Topics Reading s 08 Using Weka Weka Primer, Weka Presentation, Weka download T 13 Databases Examples from class can be found at #4 Databases 3. W Lab Work Session Lab #6 Secondary Structure Prediction T 20 Friday Instruction 22 anksgiving Holiday T 27 Phylogenetics 8.1, 8.2, 8.3, Phylip Phylip Documentation Phylogeny Tutorial T 04 Microarrays 9.1, 9.2, 9.3, Practical Microarray Analysis MAGIC toolkit, Download, Example, Uses, Book Tutorial Lab #7 Phylogeny CGI Script 1. M 10 Final Exam: 112 SWKT 7:00am 10:00am Final Exam T 11 13

6 University Policies Honor Code In keeping with the principles of the BYU Honor Code, students are expected to be honest in all of their academic work. Academic honesty means, most fundamentally, that any work you present as your own must in fact be your own work and not that of another. Violations of this principle may result in a failing grade in the course and additional disciplinary action by the university. Students are also expected to adhere to the Dress and Grooming Standards. Adherence demonstrates respect for yourself and others and ensures an effective learning and working environment. It is the university's expectation, and my own expectation in class, that each student will abide by all Honor Code standards. Please call the Honor Code Office at if you have questions about those standards. Sexual Harassment Title IX of the Education Amendments of 1972 prohibits sex discrimination against any participant in an educational program or activity that receives federal funds. e act is intended to eliminate sex discrimination in education and pertains to admissions, academic and athletic programs, and universitysponsored activities. Title IX also prohibits sexual harassment of students by university employees, other students, and visitors to campus. If you encounter sexual harassment or genderbased discrimination, please talk to your professor or contact one of the following: the Title IX Coordinator at ; the Honor Code Office at ; the Equal Employment Office at ; or Ethics Point at or (24hours). Student Disability Brigham Young University is committed to providing a working and learning atmosphere that reasonably accommodates qualified persons with disabilities. If you have any disability which may impair your ability to complete this course successfully, please contact the University Accessibility Center (UAC), 2170 WSC or Reasonable academic accommodations are reviewed for all students who have qualified, documented disabilities. e UAC can also assess students for learning, attention, and emotional concerns. Services are coordinated with the student and instructor by the UAC. If you need assistance or if you feel you have been unlawfully discriminated against on the basis of disability, you may seek resolution through established grievance policy and procedures by contacting the Equal Employment Office at , D285 ASB. Academic Honesty e first injunction of the Honor Code is the call to "be honest." Students come to the university not only to improve their minds, gain knowledge, and develop skills that will assist them in their life's work, but also to build character. "President David O. McKay taught that character is the highest aim of education" (e Aims of a BYU Education, p.6). It is the purpose of the BYU Academic Honesty Policy to assist in fulfilling that aim. BYU students should seek to be totally honest in their dealings with others. ey should complete their own work and be evaluated based upon that work. ey should avoid academic dishonesty and misconduct in all its forms, including but not limited to plagiarism, fabrication or falsification, cheating, and other academic misconduct. Devotional Attendance Brigham Young University's devotional and forum assemblies are an important part of your BYU experience. President Cecil O. Samuelson said, "We have special and enlightening series of devotional and forum assemblies...that will complement, supplement, and enrich what will also be a very productive period in your classrooms, laboratories, and libraries. We look forward to being with you each Tuesday...and hope that you will regularly attend and bring your friends and associates with you...a large part of what constitutes the unique 'BYU experience' is found in these gatherings where the Spirit has been invited and where we have the opportunity to discuss and consider things of ultimate worth and importance that are not afforded to the academic community on almost any other campus" (from the address "e Legacy of Learning", 30 August, 2005). Your attendance at each forum and devotional is strongly encouraged. Plagiarism Intentional plagiarism is a form of intellectual theft that violates widely recognized principles of academic integrity as well as the Honor Code. Such plagiarism may subject the student to appropriate disciplinary action administered through the university Honor Code Office, in addition to academic sanctions that may be applied by an instructor. Inadvertent plagiarism, which may not be a violation of the Honor Code, is nevertheless a form of intellectual carelessness that is unacceptable in the academic community. Plagiarism of any kind is completely contrary to the established practices of higher education where all members of the university are expected to acknowledge the original intellectual work of others that is included in their own work. In some cases, plagiarism may also involve violations of copyright law. Intentional PlagiarismIntentional plagiarism is the deliberate act of representing the words, ideas, or data of another as one's own without providing proper attribution to the author through quotation, reference, or footnote. Inadvertent Plagiarism Inadvertent plagiarism involves the inappropriate, but nondeliberate, use of another's words, ideas, or data without proper attribution. Inadvertent plagiarism usually results from an ignorant failure to follow established rules for documenting

7 sources or from simply not being sufficiently careful in research and writing. Although not a violation of the Honor Code, inadvertent plagiarism is a form of academic misconduct for which an instructor can impose appropriate academic sanctions. Students who are in doubt as to whether they are providing proper attribution have the responsibility to consult with their instructor and obtain guidance. Examples of plagiarism include: Direct Plagiarisme verbatim copying of an original source without acknowledging the source. Paraphrased Plagiarisme paraphrasing, without acknowledgement, of ideas from another that the reader might mistake for the author's own. Plagiarism Mosaice borrowing of words, ideas, or data from an original source and blending this original material with one's own without acknowledging the source. Insufficient Acknowledgemente partial or incomplete attribution of words, ideas, or data from an original source. Plagiarism may occur with respect to unpublished as well as published material. Copying another student's work and submitting it as one's own individual work without proper attribution is a serious form of plagiarism. Respectful Environment "Sadly, from time to time, we do hear reports of those who are at best insensitive and at worst insulting in their comments to and about others... We hear derogatory and sometimes even defamatory comments about those with different political, athletic, or ethnic views or experiences. Such behavior is completely out of place at BYU, and I enlist the aid of all to monitor carefully and, if necessary, correct any such that might occur here, however inadvertent or unintentional. "I worry particularly about demeaning comments made about the career or major choices of women or men either directly or about members of the BYU community generally. We must remember that personal agency is a fundamental principle and that none of us has the right or option to criticize the lawful choices of another." President Cecil O. Samuelson, Annual University Conference, August 24, 2010 "Occasionally, we... hear reports that our female faculty feel disrespected, especially by students, for choosing to work at BYU, even though each one has been approved by the BYU Board of Trustees. Brothers and sisters, these things ought not to be. Not here. Not at a university that shares a constitution with the School of the Prophets." Vice President John S. Tanner, Annual University Conference, August 24, 2010

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