Table of Contents
1 Cover
5 Foreword
6 1 Designing a Study for Identifying Genes in Complex Traits Introduction Components of a Disease Gene Discovery Study Keys to a Successful Study References
7 2 Basic Concepts in Genetics Introduction Historical Contributions DNA, Genes, and Chromosomes Genes, Mitosis, and Meiosis Inheritance Patterns in Mendelian Disease Genetic Changes Associated with Disease/ Trait Phenotypes Susceptibility Versus Causative Genes Summary References
8 3 Determining the Genetic Component of a Disease Introduction Study Design Approaches to Determining the Genetic Component of a Disease Summary References
9 4 Study Design for Genetic Studies Introduction Selecting a Study Population Family‐Based Studies (Linkage) Family‐Based Studies (Association) Cohort Studies Cross‐Sectional Studies Case–Control Studies Other Study Designs Biobanks Other Biobanks Biospecimens for Biobanks Summary References
10 5 Responsible Conduct of Research in Genetic Studies Introduction Research Regulations and Genetics Research Addressing Pertinent ELSI in Genetic Research Practical Methods for Efficient High‐Quality Genetic Research Services References
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6 Linkage Analysis
Disease Gene Discovery
Ability to Detect Linkage
Real World Example of LOD Score Calculation and Interpretation
Disease Gene Localization
Multipoint Analysis
Effects of Misspecified Model Parameters in LOD Score Analysis
Impact of Incorrect Disease Allele Frequency
Impact of Incorrect Mode of Inheritance
Impact of Incorrect Disease Penetrance
Impact of Incorrect Marker Allele Frequency
Control of Scoring Errors
Genetic Heterogeneity
Practical Approach for Model‐Based Linkage Analysis of Complex Traits
Nonparametric Linkage Analysis
Identity by State and Identity by Descent
Methods for Nonparametric Linkage Analysis
Tests for Linkage Using Affected Sibling Pairs (ASP)
Tests Based on Identity by Descent in ASPs
Multipoint Affected Sib‐Pair Methods
Methods Incorporating Affected Relative Pairs
NPL Analysis
Fitting Population Parameters
Power Analysis and Experimental Design Considerations for Qualitative Traits
Examples