18 Genetic Association Tests
This chapter covers the capabilities of three windows:
- The Genetic Association Test Window (18.8)
- The Principal Components Analysis Window (18.9)
- The General Marker Statistics Window (18.10)
18.1 Genetic Association Tests Overview
18.2 Genetic Models and Other Genetic Tests
18.2.1 Basic Allelic Tests
18.2.2 Genotypic Tests
18.2.3 Additive Model
18.2.4 Dominant Model
18.2.5 Recessive Model
18.3 Test Statistics
18.3.1 Correlation/Trend Test
18.3.2 Armitage Trend Test
18.3.3 Exact Form of Armitage Test
18.3.4 (Pearson) Chi-Squared Test
18.3.5 Fisher’s Exact Test
18.3.6 Odds Ratio with Confidence Limits
18.3.7 Analysis of Deviance
18.3.8 F-Test
18.4 Missing Values
18.4.1 Using Missing Values for Genotypes
18.4.2 Missing Values in a Case/Control Variable
18.5 Multiple Testing Corrections
18.5.1 Bonferonni Adjustment
18.5.2 False Discovery Rate
18.5.3 Permutation Testing
18.6 Correction for Stratification
18.6.1 Correction of Input Data by Principal Components Analysis
18.6.2 Working Premise
18.6.3 The PCA Technique
18.6.4 How Many Components to Use?
18.6.5 A Second Answer
18.6.6 Removing Outlier Subjects
18.6.7 PCA-Corrected Association Testing
18.6.8 Correction of Output Chi-Square Values and P-Values by Genomic Control
18.7 Overall Marker Statistics
18.7.1 Minor Allele Frequency
18.7.2 Output Spreadsheet of DD/Dd/dd genotypes
18.7.3 Call Rate
18.7.4 Hardy-Weinberg Equilibrium P-Value
18.7.5 Fisher’s Exact Test for HWE P-Value
18.7.6 Signed HWE R
18.7.7 Genotype Count Table(s)
18.7.8 Allele Count Table(s)
18.8 Using the Association Test Window
18.8.1 Data Requirements
18.8.2 Available Tabs
18.8.3 The Association Test Parameters Tab
18.8.4 Principal Component Analysis Parameters Tab
18.8.5 Overall Marker Statistics Tab
18.8.6 Processing
18.8.7 Spreadsheet Outputs
18.9 Using the Separate Principal Components Analysis Window
18.9.1 Data Requirements
18.9.2 Processing
18.9.3 Spreadsheet Outputs
18.10 Using the Separate General Marker Statistics Window
18.10.1 Data Requirements
18.10.2 Processing
18.2 Genetic Models and Other Genetic Tests
18.2.1 Basic Allelic Tests
18.2.2 Genotypic Tests
18.2.3 Additive Model
18.2.4 Dominant Model
18.2.5 Recessive Model
18.3 Test Statistics
18.3.1 Correlation/Trend Test
18.3.2 Armitage Trend Test
18.3.3 Exact Form of Armitage Test
18.3.4 (Pearson) Chi-Squared Test
18.3.5 Fisher’s Exact Test
18.3.6 Odds Ratio with Confidence Limits
18.3.7 Analysis of Deviance
18.3.8 F-Test
18.4 Missing Values
18.4.1 Using Missing Values for Genotypes
18.4.2 Missing Values in a Case/Control Variable
18.5 Multiple Testing Corrections
18.5.1 Bonferonni Adjustment
18.5.2 False Discovery Rate
18.5.3 Permutation Testing
18.6 Correction for Stratification
18.6.1 Correction of Input Data by Principal Components Analysis
18.6.2 Working Premise
18.6.3 The PCA Technique
18.6.4 How Many Components to Use?
18.6.5 A Second Answer
18.6.6 Removing Outlier Subjects
18.6.7 PCA-Corrected Association Testing
18.6.8 Correction of Output Chi-Square Values and P-Values by Genomic Control
18.7 Overall Marker Statistics
18.7.1 Minor Allele Frequency
18.7.2 Output Spreadsheet of DD/Dd/dd genotypes
18.7.3 Call Rate
18.7.4 Hardy-Weinberg Equilibrium P-Value
18.7.5 Fisher’s Exact Test for HWE P-Value
18.7.6 Signed HWE R
18.7.7 Genotype Count Table(s)
18.7.8 Allele Count Table(s)
18.8 Using the Association Test Window
18.8.1 Data Requirements
18.8.2 Available Tabs
18.8.3 The Association Test Parameters Tab
18.8.4 Principal Component Analysis Parameters Tab
18.8.5 Overall Marker Statistics Tab
18.8.6 Processing
18.8.7 Spreadsheet Outputs
18.9 Using the Separate Principal Components Analysis Window
18.9.1 Data Requirements
18.9.2 Processing
18.9.3 Spreadsheet Outputs
18.10 Using the Separate General Marker Statistics Window
18.10.1 Data Requirements
18.10.2 Processing