8Table 8.1 Measures of allelic association for allelesA and B at different l...Table 8.2 Case–control association studies:APOE‐4 allele and AD.Table 8.3 Summary of epidemiological measures.Table 8.4 2 × 2 Contingency table for case–control analysis.Table 8.5 Example of population stratificationa.Table 8.6 Multiallelic TDT:Tmheta.Table 8.7 Transmission disequilibrium test and diabetesa .7 Chapter 11Table 11.1 Penetrance values for combinations of genotypes from two SNPs ex...Table 11.2 Penetrance values for combinations of genotypes from two SNPs ex...
8 Chapter 12Table 12.1 The four possible outcomes of an experiment.Table 12.2 Practical considerations when determining sample size.Table 12.3 Number of sibships and nuclear families in variance component ...
List of Illustrations
1 Chapter 1Figure 1.1 Steps in a Mendelian disease gene discovery (positional cloning) ...Figure 1.2 Study cycle for a complex trait gene identification study.Figure 1.3 Components of a complex disease study and expertise needed to con...
2 Chapter 2Figure 2.1 Principles of Mendel’s first law of segregation of heritable char...Figure 2.2 Principles of Mendel’s second law of independent assortment with ...Figure 2.3 The DNA double helix is packaged and condensed in several differe...Figure 2.4 The genetic code and abbreviations for amino acids.Figure 2.5 Central dogma of genetics: DNA → RNA → protein.Figure 2.6 A G‐banded human male karyotype.Figure 2.7 The myotonic dystrophy (DM) and insulin receptor (INSR) genes are...Figure 2.8 Genetic results of crossing over: (a) no crossover: A and B remai...Figure 2.9 Genes that are on the same chromosome (syntenic) may be unlinked ...Figure 2.10 Pedigrees consistent with (a) autosomal dominant inheritance, (b...Figure 2.11 Single base pair changes in exon 4 of APOE define the 2, 3, and ...
3 Chapter 3Figure 3.1 Ascertainment schemes for genetic analysis.Figure 3.2 Example of ascertainment bias in genetic analysis when ascertaini...Figure 3.3 Correlation of age of onset among siblings affected with Alzheime...
4 Chapter 6Figure 6.1 (a) Pedigree in which a rare, fully penetrant autosomal dominant ...Figure 6.2 (a) Pedigree in which a rare, fully penetrant autosomal dominant ...Figure 6.3 Pedigree for Example 3 for calculation of LOD score for linkageph...Figure 6.4 Pedigree examples demonstrating families that are informative and...Figure 6.5 Pedigree on the left shows unordered genotypes underneath pedigre...Figure 6.6 The most likely location for the disease gene is in the 7‐cM inte...Figure 6.7 Example of multipoint linkage analysis in the presence of genetic...Figure 6.8 Examples of identity by state and identity by descent. See text f...Figure 6.9 Example showing the inclusion of additional family members (here ...Figure 6.10 Power calculations for MLS sibpair analysis.
5 Chapter 7Figure 7.1 Data normalization example for dataset with information mapping S...
6 Chapter 8Figure 8.1 Decay of allelic association for recombination fractions (Θ) of 0...Figure 8.2 An example of haplotype blocks in a 100 kb region on chromosome 1...Figure 8.3 Transmitted and non‐transmitted alleles in a family triad.Figure 8.4 Example of scoring a TDT family.
7 Chapter 9Figure 9.1 Example of raw genotype intensity clusters for a single SNP. Imag...Figure 9.2 A flowchart overview of the entire GWAS QC process. Each topic is...Figure 9.3 Example of a principal components analysis plot – visualizing the...Figure 9.4 Example of two Q‐Q plots for a GWAS dataset. The image on the lef...
8 Chapter 10Figure 10.1 Tsne visualization of methylation array data clusters for pediat...Figure 10.2 View from the UCSC genome browser of a segment of the CTNNA2 gen...
9 Chapter 11Figure 11.1 Genotype models. Given a single biallelic variant, there are thr...
Guide
5 Foreword
8 Index
9 Wiley End User License Agreement
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