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Table of Contents
Intro
Preface
Contents
About the Authors
1 Introduction to Analysis of Human Genetic Data
1.1 Need for Genetic Data Analysis
1.2 Nature of Analysis
1.3 R: A Versatile Tool for Genetic Data Analysis
1.4 Some Remarks
2 Basic Understanding of Single Gene Expression Data
2.1 Generating Questions
2.2 Visualising Data
2.2.1 Frequency Data
2.2.2 Histogram
2.2.3 Ogive
2.2.4 Boxplot
2.3 Summary Measures
2.3.1 Measures of Central Tendency
2.3.2 Measures of Dispersion
2.4 Points to Remember
References
3 Basic Probability Theory and Inference
3.1 Random Experiment
3.2 Event
3.3 Idea and Definition of Probability
3.4 Some Facts
3.5 Random Variable
3.6 Conditional Probability
3.6.1 Breaking a Probability Down by Conditioning
3.6.2 Bayes' Theorem
3.7 Independence
3.8 Discrete Probability Distributions
3.9 Expectation and Variance
3.9.1 Expectation
3.9.2 Variance
3.9.3 A Few More Discrete Distributions
3.10 Continuous Probability Distributions
3.10.1 Normal Distribution
3.10.2 Few Other Distributions
3.10.3 Important Results Related to Probability Distributions
4 Analysis of Single Gene Expression Data
4.1 Q-Q Plot
4.2 Transformation of Variables
4.3 A Few Testing Problems
4.3.1 Basics of Testing of Hypothesis
4.3.2 Interpretation of p-value
4.3.3 Test for Mean: Single Sample Problem
4.3.4 Wilcoxon Single Sample Test
4.3.5 Test for Variance: Single Sample Problem
4.3.6 Test for Equality of Two Means
4.3.7 Test for Equality of Two Variances
4.3.8 Wilcoxon Two-Sample Test for Locations
4.3.9 Test for Normality
4.4 Points to Remember
References
5 Analysis of Gene Expression Data in a Dependent Set-up
5.1 Understanding the Data
5.2 Generating Questions
5.3 Visually Inspecting the Data
5.3.1 Histogram and Boxplot
5.3.2 Finding Relationship Between Genes
5.3.3 Regression
5.4 Some Diagnostic Testing Problems for Paired Data
5.4.1 Test for Normal Distribution
5.4.2 Are Genes Correlated?
5.4.3 Test of Independence
5.5 Some Standard Paired Sample Testing Problems
5.5.1 Are Two Means Equal?
5.5.2 Test for Locations for Non-Normal Distribution
5.5.3 Regression-Based Testing
5.6 Points to Remember
References
6 Tying Genomes with Disease
6.1 Characteristics of Genomic Data
6.2 Representing Mathematically
6.3 Generating Questions
6.4 Relation Between Allele Frequency and Genotype Frequency
6.4.1 Hardy-Weinberg Equilibrium for an Autosomal Locus
6.4.2 HWE for X-linked Locus
6.4.3 Estimation of Allele Frequency
6.4.4 Mean and Variance of Allele Frequency Estimator
6.4.5 Test for HWE
6.4.6 Study Design
6.5 Genetic Association
6.5.1 Genetic Association for Qualitative Phenotype
6.5.2 Genetic Association in Presence of Covariates
6.5.3 Odds Ratio
6.5.4 Statistical Test Relating to Odds Ratio
Preface
Contents
About the Authors
1 Introduction to Analysis of Human Genetic Data
1.1 Need for Genetic Data Analysis
1.2 Nature of Analysis
1.3 R: A Versatile Tool for Genetic Data Analysis
1.4 Some Remarks
2 Basic Understanding of Single Gene Expression Data
2.1 Generating Questions
2.2 Visualising Data
2.2.1 Frequency Data
2.2.2 Histogram
2.2.3 Ogive
2.2.4 Boxplot
2.3 Summary Measures
2.3.1 Measures of Central Tendency
2.3.2 Measures of Dispersion
2.4 Points to Remember
References
3 Basic Probability Theory and Inference
3.1 Random Experiment
3.2 Event
3.3 Idea and Definition of Probability
3.4 Some Facts
3.5 Random Variable
3.6 Conditional Probability
3.6.1 Breaking a Probability Down by Conditioning
3.6.2 Bayes' Theorem
3.7 Independence
3.8 Discrete Probability Distributions
3.9 Expectation and Variance
3.9.1 Expectation
3.9.2 Variance
3.9.3 A Few More Discrete Distributions
3.10 Continuous Probability Distributions
3.10.1 Normal Distribution
3.10.2 Few Other Distributions
3.10.3 Important Results Related to Probability Distributions
4 Analysis of Single Gene Expression Data
4.1 Q-Q Plot
4.2 Transformation of Variables
4.3 A Few Testing Problems
4.3.1 Basics of Testing of Hypothesis
4.3.2 Interpretation of p-value
4.3.3 Test for Mean: Single Sample Problem
4.3.4 Wilcoxon Single Sample Test
4.3.5 Test for Variance: Single Sample Problem
4.3.6 Test for Equality of Two Means
4.3.7 Test for Equality of Two Variances
4.3.8 Wilcoxon Two-Sample Test for Locations
4.3.9 Test for Normality
4.4 Points to Remember
References
5 Analysis of Gene Expression Data in a Dependent Set-up
5.1 Understanding the Data
5.2 Generating Questions
5.3 Visually Inspecting the Data
5.3.1 Histogram and Boxplot
5.3.2 Finding Relationship Between Genes
5.3.3 Regression
5.4 Some Diagnostic Testing Problems for Paired Data
5.4.1 Test for Normal Distribution
5.4.2 Are Genes Correlated?
5.4.3 Test of Independence
5.5 Some Standard Paired Sample Testing Problems
5.5.1 Are Two Means Equal?
5.5.2 Test for Locations for Non-Normal Distribution
5.5.3 Regression-Based Testing
5.6 Points to Remember
References
6 Tying Genomes with Disease
6.1 Characteristics of Genomic Data
6.2 Representing Mathematically
6.3 Generating Questions
6.4 Relation Between Allele Frequency and Genotype Frequency
6.4.1 Hardy-Weinberg Equilibrium for an Autosomal Locus
6.4.2 HWE for X-linked Locus
6.4.3 Estimation of Allele Frequency
6.4.4 Mean and Variance of Allele Frequency Estimator
6.4.5 Test for HWE
6.4.6 Study Design
6.5 Genetic Association
6.5.1 Genetic Association for Qualitative Phenotype
6.5.2 Genetic Association in Presence of Covariates
6.5.3 Odds Ratio
6.5.4 Statistical Test Relating to Odds Ratio