Genome-Wide Association Studies
From Polymorphism to Personalized Medicine

Experts from academia and industry highlight the potential of genome-wide association studies from basic science to clinical and biotechnological/pharmaceutical applications.

Krishnarao Appasani (Edited by), Stephen W. Scherer (Foreword by), Peter M. Visscher (Foreword by)

9781107042766, Cambridge University Press

Hardback, published 14 January 2016

432 pages, 67 b/w illus. 26 colour illus. 24 tables
25.4 x 18 x 2.4 cm, 1.05 kg

'This volume provides a great resource for beginners to learn about the recent advances in GWAS and for domain experts to identity the gaps in the area. … The provided software and case studies can guide readers through the procedures and will easily allow a researcher to finish a project on their own. I think this book will be a reliable guide for anyone who wants to learn and understand GWAS. I hope other readers will enjoy the book as much as I did.' Jinliang Yang, The Quarterly Review of Biology

Over the last twenty years, genome-wide association studies (GWAS) have revealed a great deal about the genetic basis of a wide range of complex diseases and they will undoubtedly continue to have a broad impact as we move to an era of personalised medicine. This authoritative text, written by leaders and innovators from both academia and industry, covers the basic science as well as the clinical, biotechnological and pharmaceutical potential of these methods. With special emphasis given to highlighting pharmacogenomics and population genomics studies using next-generation technology approaches, this is the first book devoted to combining association studies with single nucleotide polymorphisms, copy number variants, haplotypes and expressed quantitative trait loci. A reliable guide for newcomers to the field as well as for experienced scientists, this is a unique resource for anyone interested in how the revolutionary power of genomics can be applied to solve problems in complex disease.

List of contributors
Foreword Stephen W. Scherer
Foreword Peter M. Visscher
Preface
Part I. Genome-Wide Association Studies: 1. Introduction to genome-wide association Krishnarao Appasani and Raghu K. Appasani
2. GWAS: a milestone in the road from genotypes to phenotypes Urko Martinez-Marigorta, Juan Antonio Rodriguez and Arcadi Navarro
3. Introduction to statistical methods in genome-wide association studies Can Yang, Cong Li, Dongjun Chung, Mengjie Chen, Joel Gelernter and Hongyu Zhao
4. GWAS replicability across time and space Urko Martinez-Marigorta, Juan Antonio Rodriguez and Arcadi Navarro
Part II. Genome-Wide Studies in Disease Biology: 5. Genome-wide association studies of body mass index Tuomas O. Kilpelainen
6. Identification of myocardial infarction susceptible genes and their functional analyses Kouichi Ozaki and Toshihiro Tanaka
7. Admixture mapping for disease gene discovery Randall C. Johnson, Cheryl A. Winkler and Meredith Yeager
8. Genome-wide association analysis in schizophrenia Sven Stringer, Dorien H. Nieman, René S. Kahn and Eske M. Derks
9. Epigenome-wide association studies in neurodevelopmental disorders Takeo Kubota, Kunio Miyake and Takae Hirasawa
Part III. Single Nucleotide Polymorphisms, Copy Number Variants, Haplotypes and eQTLs: 10. Finding SNPs that affect microRNA regulation in disease-associated genomic regions Laurent F. Thomas and Pal Saetrom
11. From linkage to complex associations: the role of GABRA2 as a risk factor for alcohol use Sandra Villafuerte, Elisa M. Trucco and Margit Burmeister
12. Copy number variation in monozygous twins Erwin Brosens, K. G. Snoek, D. Veenma, H. Eussen, D. Tibboel and A. de Klein
13. Haplotypes of CpG-related SNPs and association with DNA methylation patterns Yiyi Ma, Caren E. Smith, Yu-Chi Lee, Laurence D. Parnell, Chao-Qiang Lai and José M. Ordovás
14. eQTL mapping Mengjie Chen, Can Yang, Cong Li and Hongyu Zhao
Part IV. Next-Generation Sequencing Technology and Pharmacogenomics: 15. Next-generation sequencing for rare diseases Elena Bosch and Ferran Casals
16. Next-generation sequencing for complex disorders Ferran Casals and Elena Bosch
17. Chromosomal breakpoints in breast cancer co-localize with differentially methylated regions Man-Hung Eric Tang, Vinay Varadan, Sitharthan Kamalakaran, Michael Q. Zhang, James Hicks and Nevenka Dimitrova
18. Signaling network analysis of genomic alterations predict breast cancer drug targets Naif Zaman and Edwin Wang
19. Pharmacogenetic studies in pediatric acute myeloid leukemia Neha S. Bhise, Lata Chauhan and Jatinder K. Lamba
20. Pharmacogenomics of antiretroviral drugs Chonlaphat Sukasem, Apichaya Puangpetch and Sadeep Medhasi
Part V. Population Genetics and Personalized Medicine: 21. Population stratification and its implications: lessons from genome-wide studies Sheikh Nizamuddin, Rakesh Tamang and Kumarasamy Thangaraj
22. How to solve genetic disease on a population scale Barry Merriman
23. Economics of personalized medicine Katherine Payne and Martin Eden
Index.

Subject Areas: DNA & Genome [PSAK1], Biology, life sciences [PS]