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Exploring Personal Genomics
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 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 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.
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 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.
256 pages, Hardcover
First published January 1, 2013
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98 people want to read
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Displaying 1 - 3 of 3 reviews
May 1, 2020
Just as it is becoming increasingly necessary for the general public to be tech-savy due to the ubiquity of technology in daily life, a basic knowledge in personal genomics is likely to become important in a similar way, given the increasing accessibility and usage of individual genomic data.
The book aims to fill in this knowledge to the layman. However, the 'crash course' chapters can be too concise for the uninitiated. The content style falls somewhere between a pop-sci and an academic textbook which explains the dryness of the text.
Objectively, it is very informative. It introduces the different things one can do if you can get your genome sequences. Some of them include ancestry analysis, disease risk, drug response, hereditary traits, visualisation techniques, etc.
The core objective of the book is to explain how these analyses are done and what catches they come with. It gives you a sense of how far away we are from reliable analyses and how complex our biological systems are.
The book may be slightly outdated (2013) and possibly is missing other areas like epigenetics which are more recent. However, there does not seem to be a better and fresher book on the topic.
The book aims to fill in this knowledge to the layman. However, the 'crash course' chapters can be too concise for the uninitiated. The content style falls somewhere between a pop-sci and an academic textbook which explains the dryness of the text.
Objectively, it is very informative. It introduces the different things one can do if you can get your genome sequences. Some of them include ancestry analysis, disease risk, drug response, hereditary traits, visualisation techniques, etc.
The core objective of the book is to explain how these analyses are done and what catches they come with. It gives you a sense of how far away we are from reliable analyses and how complex our biological systems are.
The book may be slightly outdated (2013) and possibly is missing other areas like epigenetics which are more recent. However, there does not seem to be a better and fresher book on the topic.
July 19, 2017
An abysmally written book with a lot of good information. Very little of this book is intelligible to the lay reader, but it covers a wide variety of topics related to genomics including defining various important terms, describing methodology for gene sequencing, legal and privacy issues for personal genomic testing, limitations in the field, genetic genealogy, and so forth. I am not a scientist, but I am quite sure the treatment is too general and simplified for the experts in the field. Still, with some patience and frequent use of the Glossary, you can probably find some information useful to you if you have had your genome sequenced or are thinking about it.
I say it is badly written for many reasons:
1. It is replete with technical jargon, much of which is not defined when first used, thus rendering it almost unreadable to the layperson (although it does have a glossary at the end);
2. It is full of grammar errors. ("... marked the origination the beginning of the ..."; "with regards to...")
3. Many wrong word errors. ("Affect" for "effect", "infer" for "imply");
4. The typeface on the many graphics is too small to read (I had to use a magnifying glass in addition to my most powerful reading glasses) and many text inserts are printed on a dark gray background making them difficult to read, too;
5. Many graphics are borrowed from other sources where they were rendered in color, but were printed in the book in black and white, making them useless. For example, on p. 95 there's a world map covered with pie charts representing the distribution various Y haplogroups, identified using 18 different colors - all of which come out here as various shades of gray.
6. Lastly, and this is not the fault of the authors, it is already outdated.
The book is so full of mistakes like these that the reader cannot be confident the scientific information is accurate. The overall feel is slapdash and unprofessional.
I say it is badly written for many reasons:
1. It is replete with technical jargon, much of which is not defined when first used, thus rendering it almost unreadable to the layperson (although it does have a glossary at the end);
2. It is full of grammar errors. ("... marked the origination the beginning of the ..."; "with regards to...")
3. Many wrong word errors. ("Affect" for "effect", "infer" for "imply");
4. The typeface on the many graphics is too small to read (I had to use a magnifying glass in addition to my most powerful reading glasses) and many text inserts are printed on a dark gray background making them difficult to read, too;
5. Many graphics are borrowed from other sources where they were rendered in color, but were printed in the book in black and white, making them useless. For example, on p. 95 there's a world map covered with pie charts representing the distribution various Y haplogroups, identified using 18 different colors - all of which come out here as various shades of gray.
6. Lastly, and this is not the fault of the authors, it is already outdated.
The book is so full of mistakes like these that the reader cannot be confident the scientific information is accurate. The overall feel is slapdash and unprofessional.
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December 26, 2015So you've been sequenced, now what? This book surveys how you can explore your genetic data, what you can learn and the free tools available.
Displaying 1 - 3 of 3 reviews