Bioinformatics for Geneticists - Michael R. Barnes

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Résumé :
The study of human genetics is moving into a challenging new era of discovery. New technologies and data resources such as the HapMap, are enabling genome-wide genetic association studies which could potentially identify most common (and some rarer) genetic determinants of human health, disease and drug response. Although the tools may be at hand, more than ever care is required in their use. Faced with the sheer volume of data threatening to drown true signal in noise, bioinformatics is now assuming a central role in genetic study design, analysis and interpretation. Coupled with the advances in genetics, new insights are emerging into additional layers of complexity in genome function, for example the role of micro RNA in control of gene translation and new cis-regulatory elements identified by genetic analysis of gene expression. Understanding genetics will require an effective synthesis of this complexity and, as this book shows, this is simply not possible without bioinformatics. Bioinformatics for Geneticists seeks to describe the key bioinformatics and genetic analysis processes that are needed to identify human genetic determinants. The book is based upon the combined practical experience of domain experts from academic and industrial research environments and should be of interest to a broad audience, including students, researchers and clinicians working in the human genetics domain. * More than 50% of chapters are completely new contributions, covering data manipulation and management, the HapMap, micro RNA, comparative genomics, epigenetics, cancer genetics, genetic analysis of gene expression, high-density genome scan analysis, pharmacogenetics and drug discovery. * Dramatically revised content in core areas of gene and genomic characterization, pathway analysis, SNP functional analysis and statistical genetics. * Focused on freely available tools and web-based approaches to bioinformatics analysis, suitable for novices and experienced researchers alike. *The only book specifically addressing the bioinformatics needs of geneticists.

Biographie:
Michael R. Barnes: Bioinformatics, GlaxoSmithKline Pharmaceuticals, UK

Sommaire:
Foreword. Preface. Contributors. Glossary. SECTION I AN INTRODUCTION TO BIOINFORMATICS FOR THE GENETICIST. 1 Bioinformatics challenges for the geneticist (Michael R. Barnes). 2 Managing and manipulating genetic data (Karl W. Broman and Simon C. Heath). SECTION II MASTERING GENES, GENOMES AND GENETIC VARIATION DATA. 3 The HapMap - A haplotype map of the human genome (Ellen M. Brown and Bryan J. Barratt). 4 Assembling a view of the human genome (Colin A. M. Semple). 5 Finding, delineating and analysing genes (Christopher Southan and Michael R. Barnes). 6 Comparative genomics (Martin S. Taylor and Richard R. Copley). SECTION III BIOINFORMATICS FOR GENETIC STUDY DESIGN AND ANALYSIS. 7 Identifying mutations in single gene disorders (David P. Kelsell, Diana Blaydon and Charles A. Mein). 8 From Genome Scan Culprit Gene (Ian C. Gray). 9 Integrating Genetics, Genomics and Epigenomics to Identify. 10 Tools for statistical genetics (Aruna Bansal, Charlotte Vignal and Ralph McGinnis). SECTION IV MOVING FROM ASSOCIATED GENES TO DISEASE ALLELES. 11 Predictive functional analysis of polymorphisms: An overview (Mary Plumpton and Michael R. Barnes). 12 Functional in silico analysis of gene regulatory polymorphism (Chaolin Zhang, Xiaoyue Zhao, Michael Q. Zhang). 13 Amino-acid properties and consequences of substitutions (Matthew J. Betts and Robert B. Russell). 14 Non-coding RNA bioinformatics (James Brown, Steve Deharo, Barry Dancis, Michael R. Barnes and Philippe Sanseau). SECTION V ANALYSIS AT THE GENETIC AND GENOMIC DATA INTERFACE. 15 What are microarrays? (Catherine A. Ball and Gavin Sherlock). 16 Combining quantitative trait and gene-expression data (Elissa J. Chesler). 17 Bioinformatics and cancer genetics (Joel Greshock). 18 Needle in a haystack? dealing with 500 SNP genome scans (Michael R. Barnes and Paul S. Derwent). 19 A bioinformatics perspective on genetics in drug discovery and development (Christopher D. Southan, Magnus Ulvsb?ack and Michael R. Barnes). Appendix I. Appendix II. Index.