david mount - diunitobotta/didattica/aa1112/introbioinfo.pdf · 2011. 10. 3. · computational...

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David Mount Bioinformatics: Sequence and Genome Analysis 2 nd Edition

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Page 1: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

David MountBioinformatics: Sequence and Genome Analysis 2nd Edition

Page 2: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

Jin XiongEssential Bioinformatics

Page 3: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)
Page 4: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

Jones & PevznerBioinformatics Algorithms

Page 5: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)
Page 6: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

Baldi & BrunakBioinformatics: The Machine Learning Approach

Page 7: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

Higgins & TaylorBioinformatics: Sequence, Structure & Databanks

Page 8: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

NCBI Handbookhttp://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=handbook

Page 9: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

NCBI Handbookhttp://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=handbook

Page 10: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

EMBL-EBI Home Pagehttp://www.ebi.ac.uk/

Page 11: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

Berg, Tymoczko & StryerBiochemistry, Fifth Edition

Page 12: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)
Page 13: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

Genomics, Bioinformatics &Computational Biology

Computational Biology

Computational Molecular Biology

BioinformaticsGenomics

ProteomicsStructural Genomics

Page 14: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)
Page 15: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

DatabasesMachine Learning

Robotics

Statistics & ProbabilityArtificial Intelligence

Graph Theory

Information Theory

Algorithms

Genomics, Bioinformatics &Computational Biology

Computational Biology

Computational Molecular Biology

BioinformaticsGenomics

ProteomicsStructural Genomics

Page 16: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

What is Bioinformatics?

RNA Protein

DNA Phenotype

SelectionEvolution

Individuals

Populations

Biological Information

Page 17: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

Computational Goals of Bioinformatics

• Learn & Generalize: Discover conserved patterns (models) of sequences, structures, interactions, metabolism & chemistries from well-studied examples.

• Prediction: Infer function or structure of newly sequenced genes, genomes, proteins or proteomes from these generalizations.

• Organize & Integrate: Develop a systematic and genomic approach to molecular interactions, metabolism, cell signaling, gene expression…

• Simulate: Model gene expression, gene regulation, protein folding, protein-protein interaction, protein-ligand binding, catalytic function, metabolism…

• Engineer: Construct novel organisms or novel functions or novel regulation of genes and proteins.

• Gene Therapy: Target specific genes, or mutations, RNAi to change a disease phenotype.

Page 18: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

Central Paradigm of Molecular Biology

DNA RNA ProteinPhenotype

(Symptoms)

Page 19: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

Molecular Biology of the Gene 1965

Page 20: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)
Page 21: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)
Page 22: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

Challenges Understanding Genetic Information

GeneticInformation

MolecularStructure

BiochemicalFunction Phenotype

• Genetic information is redundant

• Structural information is redundant

• Genes and proteins are meta-stable

• Single genes have multiple functions

• Genes are one dimensional but function depends on three-dimensional structure

Page 23: David Mount - DiUniTobotta/didattica/aa1112/IntroBioinfo.pdf · 2011. 10. 3. · Computational Goals of Bioinformatics • Learn & Generalize: Discover conserved patterns (models)

Redundancy in Genomic& Protein Sequences

• DNA is double-stranded• Genetic code• Acceptable amino-acid

replacements• Intron-exon variation

• Alternative splicing• Strain variations (SNPs)

• Sequencing errors