Friday, February 11, 2011

Exploring Personal Genomics PDF

Rating: (2 reviews) Author: Visit Amazon's Joel T. Dudley Page ISBN : 9780199644490 New from $53.96 Format: PDF
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About the Author


Joel T. Dudley is a veteran bioinformatics and genomics researcher with more than 10 years of professional experience studying the genomic basis of species evolution and human disease. He has published more than 40 peer-review research articles pertaining to personal genomics, genomic medicine, pharmacogenomics, drug discovery, bioinformatics, and evolutionary genomics. Joel is Director of Informatics and Assistant Professor of Genetics and Genomics Sciences at Mount Sinai School of Medicine in New York. He earned a B.S. in Microbiology from Arizona State University and a Ph.D. in Biomedical Informatics from Stanford University.

Konrad J Karczewski is a genome scientist, bringing systems-level approaches to the study of human disease biology. He was involved with the pioneering course at Stanford University in Personalized Medicine and Genomics, where he led the development of a platform for personal genotype interpretation, the Interpretome. Konrad earned a B.A. in Molecular Biology from Princeton University and a M.S. in Biomedical Informatics from Stanford University, where he is working towards a Ph.D.
Direct download links available for PRETITLE Exploring Personal Genomics POSTTITLE
  • Paperback: 296 pages
  • Publisher: Oxford University Press, USA; First Edition edition (March 1, 2013)
  • Language: English
  • ISBN-10: 0199644497
  • ISBN-13: 978-0199644490
  • Product Dimensions: 9.6 x 7.4 x 0.6 inches
  • Shipping Weight: 1.3 pounds (View shipping rates and policies)

Exploring Personal Genomics PDF

This is an outstanding book which provides an excellent survey of a complex field that changes on a weekly basis. I read this book wearing a couple of different hats - as a medical practitioner, and as an informatician. As a medical practitioner who graduated ~5 years ago, I can say that my medical education included very little about genetics, even less about genomics and informatics was not a word I recall hearing at all. Yet the confluence of these fields is sure to transform the way that medicine is practiced (and already is in some fields, such as oncology), and is fundamental to improving the level of care available to many patients.

I would absolutely recommend this book to any clinician (doctors, nurses, genetic counsellors, allied health professionals etc) as an excellent survey of the field of personal genomics. It provides a query based approach, meaning that a motivated reader can easily apply currently available tools to their own (or sample) genomic data, and gain an understanding of the strengths, limitations and caveats that should be applied when trying to turn a mass of genomic data into something that is actually actionable. As well as describing currently available tools and methods of genomic interpretation, the authors describe in approachable prose, the statistical and conceptual underpinnings of many of the current tools, which can facilitate the critical review of additional tools for genomic interpretation which may become available in the future. I would whole-heartedly encourage medical educators to consider integrating tutorials like those available in this book into their teachings.

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