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Exploring Personal Genomics

by: Dudley, Joel T.; Karczewski, Konrad J.

ISBN: 9780199644483 | 0199644489

Format: Hardcover
Publisher: Oxford University Press, USA
Pub. Date: 3/1/2013

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Summary Table of Contents

Rapid advances in high-throughput genome sequencing technologies foreshadow a near-future in which millions of individuals will gain affordable access to their complete genome sequence. This promises to give unprecedented insights into the fundamental biological nature of ourselves and our species: where we came from, how we are born, how we interact with our environment, how we get sick, how we get well, and how we age. Personal genomics is therefore an important component of theinevitable transition towards personalized medicine, as the medic... MOREal establishment begins to explore and evaluate the role of personal genomics in health and medicine. However there is currently very little training available for medical practitioners. Exploring Personal Genomics provides a novel, inquiry-based approach to understanding and interpreting the practical, medical, and societal aspects of personal genomic information. It is presented in two parts: the first provides readers of all backgrounds with a fundamental understanding of the biology of human genomes, information on how to obtain and understand digital representations of personal genomic data, tools and techniques for exploring thepersonal genomics of ancestry and genealogy, discovery and interpretation of genetic trait associations, and the role of personal genomics in drug response. The second part offers more advanced readers an understanding of the science, tools, and techniques for investigating interactions between a personal genome and the environment,connecting DNA to physiology, assessing rare variants and structural variation, and exploring resources for performing personal biological investigation. This advanced textbook is primarily aimed at undergraduate and graduate students taking classes in genomic medicine, genetics, and bioinformatics. It will also be of relevance and use to medical practitioners, evolutionary biologists, geneticists and individuals interested in exploring their personal genetic data.

This book provides a novel inquiry-based approach to understanding and interpreting the practical, medical, and societal aspects of personal genomic information. It opens with an introduction to genomics and the issues surrounding the use of genomic data, and then discusses the potential applications of this data using real examples and data sets.

Approximately 100,000 individuals have now obtained personal genomic profiles from direct-to-consumer services, and rapid advances in high-throughput genome sequencing technologies foreshadow a near-future in which millions of individuals will gain affordable access to their complete genome sequence. Personal genomics is an important component of the inevitable transition towards personalized medicine, as the medical establishment begins to explore and evaluatethe role of personal genomics in health and medicine. However there is currently there is very little training available for medical practitioners. This book provides a novel inquiry-based approach to understanding and interpreting the practical, medical, and societal aspects of personal genomicinformation. It opens with an introduction to genomics and the issues surrounding the use of genomic data, and then discusses the potential applications of this data using real examples and data sets.

Foreword, George Church
1. A Gentle Introduction to Genomics
2. Practical and Ethical Considerations in Personal Genomics
3. Getting Started with Personal Genomics
4. Visualizing Personal Genomics
5. Ancestry and Genealogy
6. Genetic Trait Associations
7. Pharmacogenomics

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