• Skip to main content
  • Skip to top navigation bar
  •      

    Links

    Courses S23

    Courses F22

    Other Years

    Graduate Programs

    Digital Biology: A survey of topics in bioinformatics and functional genomics

    BIOL-L/MLS-M 388 Spring 2023


    Course description

    BIOL L388 DB

    Class times and locations

    Tues, Thur 11:30a - 12:45p (Credits: 3.0); Swain East (SE) 010

    Tentative schedule (click the icon for a PrinterFriendly.gif version)

    DAYDATELECTURETOPICLECTURER
    Tues Jan 10 0.1

    Orientation



    What is Digital Biology?
    Topics in bioinformatics, scope of class, and resources

    Motivation
    New virus outbreak: BBC Jan. 19, 2020
    New virus outbreak: BBC Jan. 20, 2020
    2023: XBB.1.5
    NCBI SARS-CoV-2
    Precedence: The Fastest Outbreak - connection to bioinformatics work


    Bioinformatics Databases and Computing Resources
    National Center for Biotechnology Information (NCBI), a great starting point for "anything" bioinformatics

    Mapping biological question onto computational problems:
    The modeling spiral
    Sequence gazing: the famous TATA-box
    AlphaFold
    Volker Brendel
    Thur Jan 12 1.1

    Module 1: Bioinformatics resources and workspaces




    Ubuntu on Windows: ... a quick way to get to a command line terminal

    Virtual Machines: VirtualBox

    Linux Basics

    Basic UNIX shell tutorial
    Command-line bootcamp

    The UNIX Shell
    The UNIX Shell: Summary of Basic Commands
    vi(m) editor tutorial

    Volker Brendel
    Tues Jan 17 1.2 Customizing your Linux work space
    Getting code with git

    Working with NCBI data
    Volker Brendel
    Thur Jan 19 1.3 Command line access to NCBI data: EDirect

    Entrez Direct
    NCBI Sequence search fields
    MEDLINE/PubMed search fields
    Volker Brendel
    Tues Jan 24 1.4 Review: Command-line bootcamp Volker Brendel
    Thur Jan 26 1.5 Review: Statistical evaluation of sequence features
    Using generic Linux commands to process sequence data (at least for previews or consistency checks ...)

    Home Work Assignment 1 posted. Due: Feb. 2, 6:00pm
    Volker Brendel
    Tues Jan 31 2.1

    Module 2: Pairwise Sequence Alignment




    Motivation

    How Do We Compare Biological Sequences?
    from Bioinformatics Algorithms: An Active Learning Approach
    Volker Brendel
    Thur Feb 2 2.2 PWSA: Definition and representation of "alignments"

    Home Work Assignment 1 due at 6:00pm
    Volker Brendel
    Tues Feb 7 2.3 Global alignment (Needleman-Wunsch)
    How to calculate the number of NW alignments
    Volker Brendel
    Thur Feb 9 2.4 Scoring alignments
    How to calculate the optimal alignment score
    (and find an optimal alignment)
    PWSA: allowing "double-gaps"
    PWSA: local alignment (Smith-Waterman)

    Home Work Assignment 2 posted. Due: Feb. 17, 6:59pm
    Volker Brendel
    Tues Feb 14 2.5 Sequence analysis with scores: Concepts and statistical foundations

    Volker Brendel
    Thur Feb 16 2.6 Sequence analysis with scores: Practice

    BLAST and Substitution scoring matrices
    Biological Sequence Analysis I (Lecturer: Dr. Andy Baxevanis)

    Slides for Sequence Analysis I presentation
    Handout for Sequence Analysis I presentation
    Volker Brendel
    Tues Feb 21 3.1

    Module 3: Basic Concepts in Molecular Phylogenetics




    Molecular Phylogeny: Models

    The powers and pitfalls of parsimony
    Volker Brendel
    Thur Feb 23 3.2 Lectures on molecular phylogeny
    (from Bioinformatics: An Active Learning Approach)
    Volker Brendel
    Tues Feb 28 3.3 Methods I: Parsimony

    Home Work Assignment 3 posted. Due: March 7, 11:00pm
    Volker Brendel
    Thur March 2 3.4 Methods II: Distance matrix methods

    Volker Brendel
    Tues March 7 4.1

    Module 4: Hidden Markov Models




    Hidden Markov Models: Concepts and Algorithms

    Hidden Markov Models
    (from Bioinformatics: An Active Learning Approach)

    Volker Brendel
    Thur March 9 4.2 Hidden Markov Models: Applications

    Profile Hidden Markov Models
    TagDust Tagdust2 on github
    GeneMark.hmm prokaryotic
    GENSCAN; paper see here

    Background:
    GeneMark article
    Review: Conditional Probability
    Volker Brendel
    Tues March 14 Spring Break
    Thur March 16 Spring Break
    Tues March 21 5.1

    Module 5: Genome Assembly and Annotation




    Eukaryotic gene finding:

    GeneMark
    AUGUSTUS
    Volker Brendel
    Thur March 23 5.2 Genome Annotation: Evaluation

    Sensitivity, specificity, and all that
    sample paper

    How to evaluate gene structure prediction accuracy
    Volker Brendel
    Tues March 28 5.3 Genome Sequencing:

    Illumina sequencing
    nanopore sequencing

    Assembly basics
    NCBI Assembly Help
    Volker Brendel
    Thur March 30 5.4 Genome assembly:

    How do we assemble genomes?
    from Bioinformatics Algorithms: An Active Learning Approach

    Volker Brendel
    Tues April 4 6.1

    Module 6: Genetic Variation






    Home Work Assignment 5 posted. Due: April 11, 7:00pm
    Home Work Assignment 6 posted. Due: April 14, 11:00pm
    Volker Brendel
    Thur April 6 6.2 Sequence Alignment Map format (SAM)
    SAM flags explained
    Pileup format (used by samtools)

    Relevant code:

    samtools
    bwa
    Volker Brendel
    Tues April 11 6.3 Relevant file format specifications:

    Variant Call Format (VCF)

    Relevant code:

    NCBI SRA Toolkit
    freebayes
    Volker Brendel
    Thur April 13 6.4 Gene Expression Analyses
    from Bioinformatics Algorithms: An Active Learning Approach

    MIT Lecture: Gene Regulatory Networks
    MIT Data Science: Clustering
    Volker Brendel
    Tues April 18 7.1

    Module 7: Protein Structure




    PDB: What is a protein?
    PDB: How enzymes work
    Guide to PDB

    PDB Molecule of the Month
    NCBI Protein

    Volker Brendel
    Thur April 20 7.2 peptide bond
    Ramachandran plot ... very nice visualization thereof
    (thanks to Prof. Eric Martz)

    Secondary Structure

    2StruCompare server

    Jpred - secondary structure prediction
    SPIDER3

    HMMer
    PFAM

    foldit
    AlphaFold

    Volker Brendel
    Tues April 25 8.1 Review: Managing workflows

    loops in bash
    Volker Brendel
    Thur April 27 8.2 Review Volker Brendel
    Thur May 4 12:20pm Final Project submission due Students