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Introduction to Bioinformatics
Niema Moshiri and Argus Athanas
Course Overview
http://farm4.static.flickr.com/3478/3459872680_82523687c3.jpg
What is Bioinformatics?
http://www.bioinformaticsonline.com/images/Cartoon/elephant1.gif
Original Bioinformatics Definition
• It seemed to us that one of the defining
properties of life was information processing
in its various forms, e.g., information
accumulation during evolution, information
transmission from DNA to intra- and
intercellular processes, and the interpretation
of such information at multiple levels.
Hogeweg, P. The Roots of Bioinformatics in Theoretical Biology. PLoS Comput Bio. 2011.
National Center for Biotechnology
Information (NCBI)
• Bioinformatics
– Bioinformatics is the field of science in which
biology, computer science, and information
technology merge to form a single discipline.
• Computational Biology
– The actual process of analyzing and interpreting
data is referred to as computational biology.
Why Do We Need Bioinformatics?
http://www.philcallaway.ab.ca/images/Cartoons/privacy%20cartoon2.jpg
Sequencing Data Growth
http://beta2.kurzweilai.net/images/dna_sequencing_data.jpg
Sequencing Data Types
• DNA-Seq
• RNA-Seq
• ChIP-Seq
• Methyl-C-Seq
• Dnase Hypersensitivity
• Hi-C
• smRNA-Seq
http://www.biomics.nl/images/illuminahiseq.jpg
Large Scale Phenotyping
http://www.facebook.com/photo.php?fbid=148333308522103&set=a.148333175188783.21243
.126625494026218&type=1&theater
Mass Spectrometry
http://upload.wikimedia.org/wikipedia/en/7/7e/Mass_spectrum_coprostanol.png
Networks
http://www.thp.uni-koeln.de/~lassig/images/network01.jpg
http://www.youtube.com/watch?v=9aCEM1csxJM
Bioinformatics Problems
• Sequence Alignment
• Genetic Variation Detection
• Phylogenetics
• Gene Expression Analysis
http://www.youtube.com/watch?v=RpuTps9OumQ&feature=related
Bioinformatics in the News
• A New Bioinformatics System Improves Medical Diagnosis
– http://www.sciencedaily.com/releases/2011/06/110628094833.
htm
• Pacific Biosciences Contributes Whole Genome Sequence
Data for German E. Coli Outbreak Strain and 11 Related
Strains for Comparative Analysis
– http://www.marketwatch.com/story/pacific-biosciences-
contributes-whole-genome-sequence-data-for-german-e-coli-
outbreak-strain-and-11-related-strains-for-comparative-analysis-
2011-07-06?reflink=MW_news_stmp
• Initiative Launched to Sequence 5,000 Insects
– http://www.genomeweb.com/sequencing/initiative-launched-
sequence-5000-insects
Preparing for a Career in
Bioinformatics
• Try a whole bunch of stuff!
• Don’t give up on math
• Learn/understand Computer Science
• Don’t forget, the biology is what people care
about
http://www.youtube.com/watch?v=kZ3y8e676cw&feature=related
Where Can You Work In
Bioinformatics?
http://www.tomhcanderson.com/wp-content/uploads/2010/11/textminingacademia.jpg
http://www.freefoto.com/images/13/53/13_53_21---Sunset--Teesside-Industry_web.jpg
http://www.youtube.com/watch?v=ydXLP3MlO58
http://www.youtube.com/watch?v=dJrpSvsFXFI
Gene Patenting
http://www.cbsnews.com/video/watch/?id=6362525n
•Requirements for a patent
•Novelty, Usefulness, and Nonobvious
•Dr. Picard, through an intense genomic analysis of many patients, has
recently isolated a gene from humans that is responsible for providing
immunity to HIV. Recognizing the obvious therapeutic benefits this gene
might hold, he files a patent request with the US patent office.
•Should Dr. Picard’s patent be accepted?
•If Dr. Picard’s patent is accepted, what should other researchers and
companies be allowed to do with his gene (i.e., what kinds of research
and products can they develop)?
•What are the pros and cons of allowing Dr. Picard to patent his
discovery?
Introduction to Bioinformatics:
DNA
http://www.firstscience.com/home/images/cartoons/li155.jpg
Central Dogma of Biology
http://library.thinkquest.org/C0122429/pictures/centraldogma2.gif
The central dogma of molecular biology deals with the detailed residue-
by-residue transfer of sequential information. It states that information
cannot be transferred back from protein to either protein or nucleic acid.
Crick F (August 1970). "Central dogma of molecular biology.". Nature 227 (5258): 561–3.
Molecule of Inheritance
Image:http://upload.wikimedia.org/wikipedia/commons/thumb/6/6a/Griffith_experiment.svg/716px-
Griffith_experiment.svg.png
Experiment: Avery, MacLeod, and McCarty (1944). "Studies on the Chemical Nature of the Substance Inducing
Transformation of Pneumococcal Types: Induction of Transformation by a Desoxyribonucleic Acid Fraction Isolated from
Pneumococcus Type III". Journal of Experimental Medicine 79 (1): 137–158.
The Case for DNA
http://www.visionlearning.com/library/modules/mid149/Image/VLObject-3756-080922120939.jpg
The Structure of DNA
Experiment: Watson J.D. and Crick F.H.C. (1953). "A Structure for Deoxyribose Nucleic
Acid" (PDF). Nature 171 (4356): 737–738.
Image: http://shs.westport.k12.ct.us/forensics/10-dna/dna_molecule.gif
Gel Electrophoresis
http://palmer-dna-technology-wikis.wikispaces.com/file/view/gel-electrophoresis-
1.jpg/194892888/gel-electrophoresis-1.jpg
The Organization of DNA
http://www.med.unc.edu/~bstrahl/chromatin.png
DNA Replication
http://www.youtube.com/watch?v=teV62zrm2P0
http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/R/ReplicationFork.gif
PCR
http://scienceblogs.com/insolence/upload/2007/06/PCR.jpg
http://www.youtube.com/watch?v=2KoLnIwoZKU
Sanger Sequencing
http://www.scq.ubc.ca/wp-content/uploads/2006/08/sequencing2.gif
What are the first 10 bases of this DNA
sequence?
Illumina Sequencing
http://seqanswers.com/forums/images/content/ilmn-step1-6.jpg
http://seqanswers.com/forums/images/content/ilmn-step7-12.jpg
Illumina Sequencing
Illumina Sequencing
Illumina Sequencing
Illumina Sequencing
• https://www.youtube.com/watch?v=HMyCq
WhwB8E
SOLiD Sequencing
http://www.youtube.com/watch?v=nlvyF8bFDwM
http://www.appliedbiosystems.com/absite/us/en/home/applications-technologies/solid-next-
generation-sequencing/next-generation-systems/solid-sequencing-chemistry.html
SOLiD Sequencing
SOLiD Sequencing
SOLiD Sequencing
Pacific Biosciences Sequencing
• http://www.youtube.com/watch?v=v8p4ph2
MAvI
Other Sequencing Technologies
• 454
• Oxford Nanopore
• Ion Torrent
Now what?
https://www.wiki.ed.ac.uk/download/attachments/36021339/maqscreenshot.png
ACTCCCAGACCTTGGATATGAC x 250,000,000

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Introduction to Bioinformatics