This book is intended to provide fundamental statistical concepts and R tools relevant to the analysis of genetic data arising from population-based association studies. The statistical methods described are broadly relevant to the field of statistical genetics and include a large array of tools for a wide variety of medical and public health applications. Data analytic methods include approaches to handling multiplicity, ambiguity in haplotypic phase and underlying gene-gene and gene-environment interactions. Several publicly available data sets are used for illustration
- Chapter 1
# 1.1: Identifying the minor allele and its frequency
Chapter 2 - # 2.1: Chi-squared test for association
# 2.2: Fisher's exact test for association
# 2.3: Chochran-Armitage (C-A) trend test for association
# 2.4: Two-sample tests for association for a quantitative trait
# 2.5: M-sample tests of association for a quantitative trait
# 2.6: Linear Regression - Chapter 3
- # 3.1: Measuring LD using D-prime
# 3.2: Measuring LD for a group of SNPs - # 3.3: Measuring LD based on r^2 and the \chi^2-statistic
# 3.4: Determining average LD across multiple SNPs - # 3.5: Population substructure and LD
# 3.6: Testing for HWE using Pearsons \chi^2-test - # 3.7: Testing for HWE using Fishers exact test
# 3.8: HWE and geographic origin - # 3.9: Generating a similarity matrix
# 3.10: Multidimensional scaling (MDS) for identifying population substructure - # 3.11: Principal components analysis (PCA) for identifying population substructure
- Chapter 4
- # 4.1: Bonferroni adjustment
# 4.2: Tukeys single-step method - # 4.3: Banjamini and Hochberg (B-H) adjustment # 4.4: Benjamini and Yekutieli (B-Y) adjustment
- # 4.5: Calculation of the q-value
- # 4.6: Free step down resampling adjustment
- # 4.7: Null unrestricted bootstrap approach
- Chapter 5
# 5.1: EM approach to haplotype frequency estimation - # 5.2: Calculating posterior haplotype probabilities
# 5.3: Testing hypotheses about haplotype frequencies within the EM framework - # 5.4: Application of haplotype trend regression (HTR)
# 5.5: Multiple imputation for haplotype effect estimation and testing - # 5.6: EM for estimation and testing of haplotype-trait association
- Chapter 6
# 6.2: Creating a classification tree - # 6.3: Generating a regression tree
# 6.4: Categorical and ordinal predictors in a tree
# 6.5: Cost-complexity pruning - Chapter 7
# 7.1: An application of random forests - # 7.2: RF with missing SNP data - single imputation
# 7.3: RF with missing SNP data - multiple imputation - # 7.4: MIRF
- # 7.5: Application of logic regression
- # 7.6: Monte Carol logic regression
- # 7.7: An application of MARS
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