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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.

Contents

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