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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
11 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
