Читать книгу Genetic Analysis of Complex Disease - Группа авторов - Страница 2
Table of Contents
Оглавление1 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 Population Parameters Power Analysis and Experimental Design Considerations for Qualitative Traits Examples of Sib‐Pair Methods for Mapping Complex Traits Mapping Quantitative Traits Measuring Genetic Effects in Quantitative Traits Study Design for Quantitative Trait Linkage Analysis Variance Components Linkage Analysis Nonparametric Methods The Future References
12 7 Data Management Developing a Data Organization Strategy Database Management System (DBMS) and Structured Query Language (SQL) Database Implementation Other Tools for Data Management and Manipulation Conclusion References
13 8 Linkage Disequilibrium and Association Analysis Introduction Linkage Disequilibrium Summary References
14 9 Genome‐Wide Association Studies Introduction Design Data Analysis Conclusion References
15 10 Bioinformatics of Human Genetic Disease Studies Introduction Common Threads Genome Analysis Processing and Analysis of Genomic Data Bioinformatics Resources References
16 11 Complex Genetic Interactions/Data Mining/Dimensionality Reduction Human Diseases Are Complex Complexity of Biological Systems Statistical and Mathematical Concepts of Complex Genetic Models Analytic Approaches to the Detection of Complex Interactions Conclusion References
17 12 Sample Size, Power, and Data Simulation Introduction Sample Size and Power Power Calculations and Simulation Power Studies for Association Analysis Power Simulations for Linkage Analysis Summary References
18 Index
