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Exploring Personal Genomics, by Joel T. Dudley, Konrad J. Karczewski
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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 offer unprecedented insights into the fundamental biological nature of ourselves and our species: where we came from, how we begin our lives, how we develop and grow, how we interact with our environment, how we get sick, how we get well, and how we age. Personal genomics is an essential component of the inevitable transition towards personalized health and medicine. As the medical establishment begins to explore and evaluate the role of personal genomics in health and medicine, both clinicians and patients alike will gain from becoming well versed in both the power and the pitfalls of personal genomic information. Furthermore, it is likely that all students of the biomedical sciences will soon be required to gain crucial understanding in the emerging field of personal genomics.
Exploring Personal Genomics provides a novel, inquiry-based approach to the understanding and interpretation of the practical, medical, physiological, and societal aspects of personal genomic information. The material 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 the personal 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, and assessing rare variants and structural variation.
This book aims to support undergraduate and graduate studies in medicine, genetics, molecular biology, and bioinformatics. Additionally, the design of the content is such that medical practitioners, professionals working in the biomedical sciences or related fields, and motivated lay individuals interested in exploring their personal genetic data should find it relevant and approachable.
- Sales Rank: #240715 in Books
- Published on: 2013-03-01
- Original language: English
- Number of items: 1
- Dimensions: 7.40" h x .60" w x 9.60" l, .0 pounds
- Binding: Paperback
- 256 pages
Review
Beneficiaries will include not only researchers, students and biomedical professionals but general readers and social scientists wanting to comprehend the personal and social implications of genomic information...an exceptional piece of authorship and publishing. Dr Bernard Dixon OBE, The Biologist
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.
Most helpful customer reviews
15 of 15 people found the following review helpful.
Must read - for clinicians, informaticians & citizen scientists
By Ben Readhead
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.
As an new informatician, I can attest that a huge amount of time is spent piecing together the conceptual landscape of available technologies, their limitations, their strengths, their common and their controversial uses, to help decide where one's marginal effort will be most useful. Exploring Personal Genomics is written by two authors at the top of their field who have obviously put massive effort into distilling this type of knowledge, and who do a great job in communicating this with an appropriate level of detail which allows a biologist, or motivated layperson to come away with enough understanding to know the coarse structure of many fields within genomics. The book is also well referenced, leaving the interested reader with a lot of additional detail to follow up on if they choose to dig deeper.
In summary, this book has a lot to offer many, quite different types of reader, such as practical tutorials for someone who has some personal genomic information; for the doctor, wanting to know what to say to the patient who presents with some 23andme data wondering about their Alzheimers risk; or for the researcher, interested in a broad, and often deep perspective of the current strengths, limitations and trends of the field of personal genomics.
4 of 6 people found the following review helpful.
Great resource on Personal Genomics
By Max Heffler
Not too shallow and not too deep. Enough information to be enlightening and informative. I am enjoying reading it. I am probably about half-way through it.
0 of 0 people found the following review helpful.
Five Stars
By JLRF
Great introduction to basic concepts for someone interested in genomics. Very few decent texts exist in this cutting-edge field.
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