#acl All:read
= Summary of Affymetrix Microarray Data Analysis =
1. '''Affymetrix Microarray Data'''
* CEL files: contain intensity values, higher intensity (transcript abundance) more active genes
* CDF (chip description file) files: specify the probe and probe set to which each cell belongs
* Terms:
* Probe: oligonucleotides of 25 base (pair) length used to probe RNA targets (25 base sequence)
* Probe pair: a unit composed of a perfect match (PM) and its mismatch (MM)
* Probe pair set: PMs and MMs related to a common affyID (a group of probe pairs corresponds to a particular gene or a fraction of a gene. Some genes are represented by more than one probe set.)
* affyID: an identification for a probe set (which can be a gene or a fraction of a gene) represented on the array
1. '''Microarray Experimental Designs'''
* Biological and technical replicates
* Pooling (biological averaging), blocking, randomized
* Sample size determination
1. '''Data Exploration'''
* MA plots
* M values are log fold changes, M=log2(T/C)=log2(T)-log2(C)
* A values are average log intensities between two arrays, A=(log2(T)+log2(C))/2
* Images, residual images
* Histograms, boxplots
* RNA degradation plots
1. '''Data Preprocessing'''
* Approaches: background correction, normalization, PM correction, and summarization
a. Background correction methods:
* rma: robust multiarray average method (Irizarry et al. 2003)
* mas: Affymetrix Microarray Suite background correction method (2002)
* GCRMA: modified RMA to estimate nonspecific binding (Wu et al. 2004)
a. Normalization methods:
* quantile, contrast and loess: discussed and compared by Bolstad et al. (2003)
* constant (scaling): taken by Affymetrix, usually done after summarization
* invariantset: used in the dChip software (Li and Wong 2001)
* qspline: normalized by fitting splines to the quantiles (Workman et al. 2002).
a. PM correction methods:
* mas: an ideal mismatch subtracted from PM (Affymetrix 2002)
* pmonly: no adjustment to the PM values.
* subtractmm: subtract MM from PM (Affymetrix MAS 4.0 1999)
a. Summarization methods:
* avgdiff: the average (Affymetrix MAS 4.0 1999)
* mas: Tukey biweight on log2(PM-CM) (Affymetrix MAS 5.0 2002)
* liwong: model-based expression index (MBEI) (Li and Wong 2001), fitting the following multi-chip model to each probeset:
* y_ij = theta_i * phi_j + epsilon_ij, where y_ij = PM_ij - MM_ij
* y_ij = mu_i + theta_i * phi_j + epsilon_ij, where y_ij = PM_ij
* medianpolish: used in the RMA expression summary (Irizarry et al. 2003). A multichip linear model is fit to data from each probeset
* y_ij = alpha_i + beta_j + epsilon_ij, where y_ij are the background-adjusted, normalized, and log-transformed PM intensities
* playerout: Lazaridis et al. (2002)
* Popular methods
|| '''Methods''' || '''Background correction''' || '''Normalization''' || '''PM correction''' || '''Summarization''' ||
|| RMA || rma || quantile || pmonly || medianpolish (log2 scale)||
|| MAS5 || mas || constant || mas || mas (log2 scale)||
|| MBEI || PM only || invariantset || pmonly or subtractmm || liwong ||
* Comparison of methods: compare the performance (power and FDR) of the methods using the data where the truth is known.
* R function expresso: combining the preprocessing methods together, but not every method can be combined.
* rma background correction adjusting only PM probe intensities should only be used in conjunction with the pmonly PM correction.
* subtractmm PM correction should not be used in conjunction with mas and medianpolish summarization methods because of likely negative corrections.
1. '''Analysis of Differentially Expressed Genes'''
* Approaches
* Parametric test: t-test
* Non-parametric tests: Wilcoxon sign-rank/rank-sum tests
* Linear models of microarrays (limma package):
* linear models and design matrix
* Contrasts and contrasts matrix
* ANOVA and MANOVA
* Multiple testings (p-value adjustments):
* FWER: Bonferroni
* FDR: Benjamini Hochberg
1. '''Clustering of Differentially Expressed Genes'''
* Annotation; Gene ontology
* Venn diagrams; clustering; classification
* Diagnostics
'''References'''
[[http://www.bioconductor.org/packages/release/bioc/vignettes/affy/inst/doc/builtinMethods.pdf | B. Bolstad (2014) Built-in Processing Methods]] <
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[[http://media.affymetrix.com/support/technical/whitepapers/sadd_whitepaper.pdf | Affymetrix, Statistical algorithms description document, 2002.]] <
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[[http://www.ncbi.nlm.nih.gov/pubmed/16646809 | Smyth (2004) Linear models and empirical bayes methods for assessing differential expression in microarray experiments.]] <
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[[http://amstat.tandfonline.com/doi/abs/10.1198/016214504000000683#.U7yutPm-30s | Wu et al. (2004) A model-based background adjustment for oligonucleotide expression arrays, JASA.]] <
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[[http://bioinformatics.oxfordjournals.org/content/19/2/185.full.pdf | Bolstad et al. (2003) A comparison of normalization methods for high density oligonucleotide array data based on variance and bias, Bioinformatics.]] <
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[[http://biostatistics.oxfordjournals.org/content/4/2/249.full.pdf+html | Irizarry et al. (2003) Exploration, normalization, and summaries of high density oligonucleotide array probe level data, Biostatistics.]] <
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[[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC126873/pdf/gb-2002-3-9-research0048.pdf | Workman et al. (2002) A new non-linear normalization method for reducing variability in DNA microarray experiments, Genome Biol.]] <
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[[http://www.ncbi.nlm.nih.gov/pubmed/11867083 | Lazaridis et al. (2002) A simple method to improve probe set estimates from oligonucleotide arrays, Math Biosci.]] <
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[[http://www.pnas.org/content/98/1/31.long | Li and Wong (2001) Model-based analysis of oligonucleotide arrays: Expression index computation and outlier detection, PNAS.]] <
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[[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC55329/ | Li and Wong (2001) Model-based analysis of oligonucleotide arrays: model validation, design issues and standard error application, Genome Biology]] <
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