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Genetics of Complex Human Diseases: A Laboratory Manual

Subject Area(s):  Human Biology and DiseaseGeneticsLaboratory Techniques

Edited by Ammar Al-Chalabi, MRC Centre for Neurodegeneration Research, King’s College London; Laura Almasy, Southwest Foundation for Biomedical Research, San Antonio, Texas

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© 2009 • 220 pp., illus., index
Paperback •
ISBN  978-087969883-6

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Many human diseases—including Alzheimer’s disease, schizophrenia, cancer, and cardiovascular disease—show complex inheritance that requires sophisticated analysis. Genetics of Complex Human Diseases: A Laboratory Manual brings together the tools that geneticists use to find disease genes with the genetic concepts and statistical theories that underpin these research approaches. Topics covered include basic genetics and Mendelian inheritance, statistical methods, genetic epidemiology, linkage studies, transmission disequilibrium test analysis, variance components analysis, genome-wide association studies, copy-number variation, methods for high-throughput genotyping, the complexity of RNA editing, and genetic computer programs. The book’s chapters, written by leading investigators in the field, blend practical information and reviews of each topic, providing both the how and the why of complex disease analysis. Genetics of Complex Human Diseases is an important guide for anyone with an interest in human genetics or who uses genetic techniques in the study of diseases with complex inheritance.


1. Introduction
Ammar Al-Chalabi and Laura Almasy
2. “Statistics 101”—A Primer for the Genetics of Complex Human Diseases
Janet Sinsheimer
3. Linkage Analysis of Discrete Traits
Ingrid B. Borecki and John P. Rice
4. Epidemiologic Considerations in Complex Disease Genetics
John Gallacher
5. Variance Component Methods for Analysis of Complex Phenotypes
Laura Almasy and John Blangero
6. Multiple Testing and Power Calculations in Genetic Association Studies
Hon-Cheong So and Pak C. Sham
7. Introduction to Genetic Association Studies
Cathryn M. Lewis and Jo Knight
8. Genome-Wide Association Studies
Ammar Al-Chalabi
9. Introduction to Linkage Disequilibrium, the HapMap, and Imputation
Benjamin M. Neale
10. Meta-Analysis of Genome-Wide Association Studies
Paul I.W. de Bakker, Benjamin M. Neale, and Mark J. Daly
11. Gene–Environment Interaction and Common Disease
Ruth J.F. Loos and Nicholas J. Wareham
12. Family-Based Genetic Association Tests
Eden R. Martin and Evadnie Rampersaud
13. Copy-Number Variation and Common Human Diseases
Dheeraj Malhatra and Jonathan Sebat
14. Oncogenomics
Simon J. Furney, Gunes Gundem, and Nuria Lopez-Bigas
15. When the Genetic Code Is Not Enough—How Sequence Variations Can Affect Pre-mRNA Splicing and Cause (Complex) Disease
Brage Storstein Andresen and Adrian R. Krainer
16. Laboratory Methods for High-Throughput Genotyping
Howard J. Edenberg and Yunlong Liu
17. Gene Set Analysis and Network Analysis for Genome-Wide Association Studies
Inti Pedroso and Gerome Breen

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