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Gene Expression Analysis Konstantin Tretyakov ([email protected]) BIIT Research group (http://biit.cs.ut.ee)

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Page 1: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Gene Expression Analysis

Konstantin Tretyakov ([email protected])

BIIT Research group (http://biit.cs.ut.ee)

Page 2: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Science

November 2011 2

Observation Analysis Generalization

Page 3: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Science

November 2011 3

Observation Analysis Generalization

Page 4: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Science

November 2011 4

Observation Analysis Generalization

Page 5: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Science

November 2011 5

Observation Analysis Generalization

Page 6: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

November 2011 6

Page 7: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

November 2011 7

Observation Analysis Generalizatin

Page 8: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Why?

November 2011 8

Page 9: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Why?

November 2011 9

Page 10: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Contemporary Science

November 2011 10

Observation Analysis Generalization

Page 11: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Contemporary Science

November 2011 11

Page 12: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Contemporary Science

November 2011 12

Page 13: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Contemporary Science

November 2011 13

Page 14: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Contemporary Science

November 2011 14

Observation Analysis Generalization

Page 15: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Contemporary Science

November 2011 15

Observation Analysis Generalization

Page 16: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Contemporary Science

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Observation Analysis Generalization

Data mining,

Data analysis, Statistical analysis,

Pattern discovery, Statistical learning,

Machine learning, Predictive analytics,

Business intelligence, Data-driven statistics

Inductive reasoning, Pattern analysis,

Knowledge discovery from databases,

Analytical processing,

Page 17: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Contemporary Bioinformatics

November 2011 17

Observation Analysis Generalization

Bioinformatics

Nucleotide

sequences

Molecular

interactions

Gene expression

Heredity

Drug effects

Page 18: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Contemporary Bioinformatics

November 2011 18

Observation Analysis Generalization

Bioinformatics

Nucleotide

sequences

Molecular

interactions

Gene expression

Heredity

Drug effects

Page 19: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

November 2011 19

Page 20: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

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Page 21: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Bioconductor

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Page 22: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

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Page 23: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Why measure gene expression?

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Page 24: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

How to measure expression?

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DNA

RNA

Protein

Page 25: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

How to measure expression?

November 2011 25

DNA

RNA

Protein

Page 26: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

How to measure expression?

November 2011 26

DNA

RNA

Protein

Page 27: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

How to measure expression?

November 2011 27

RNA

Page 28: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

How to measure expression?

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RNA

Page 29: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Microarray

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RNA

cDNA

Microarray

Page 30: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Microarray technology

cDNA

Oligonucleotide

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Page 31: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

cDNA: 2-dye chip

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Page 32: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Normalization of 2-dye chips

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log(R) + log(G)

Lo

g(R

/G)

Page 33: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Affymetrix GeneChip

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$100-850

Millions of probes per cell

500 000 cells per chip Each probe = 25 bp

Page 34: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Affymetrix GeneChip

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10-20 probes, each 25 basepairs long

Gene

+ as many “mismatch” probes

Page 35: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Affymetrix GeneChip

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Page 36: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Affymetrix GeneChip

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Page 37: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Affymetrix GeneChip

November 2011 37

Page 38: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Affymetrix GeneChip

November 2011 38

Page 39: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Affymetrix GeneChip

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10-20 probes, each 25 basepairs long

Gene

+ as many “mismatch” probes

Probe1 = 2.0 Probe1 = 1.0 Probe3 = 1.5 …

.DAT

Gene1 = -1 Gene2 = 0.2 Gene3 = 1.2 …

.CEL .CSV

Page 40: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Gene expression databases

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Gene Expression Omnibus: http://www.ncbi.nlm.nih.gov/geo/

ArrayExpress: http://www.ebi.ac.uk/arrayexpress/

Page 41: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

ArrayExpress

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Page 42: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

ArrayExpress

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Page 43: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

AffyBatch

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Page 44: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

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Page 45: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Dirty data

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Page 46: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Dirty data

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Page 47: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Normalization

Do we trust the measured data?

What to do with PM/MM?

How to match Probeset to a Gene?

How to normalize multiple chips?

November 2011 47

Page 48: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Normalization

Do we trust the measured data?

What to do with PM/MM?

How to match Probeset to a Gene?

How to normalize multiple chips?

November 2011 48

Page 49: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

Gene expression data

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Expression data

Experiments

Ge

ne

s G(i,j)

Page 50: Gene Expression Analysis - courses.cs.ut.ee€¦ · Machine learning, Predictive analytics, Business intelligence, Data-driven statistics ... Bioinformatics Nucleotide sequences Molecular

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Comprehensive Identification of Cell Cycle-regulated Genes of the

Yeast Saccharomyces cerevisiae by Microarray Hybridization. Paul Spellman, et al. (1998)

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