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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 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 the inevitable transition towards personalized medicine, as the medical 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 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, 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.
George Church: Foreword
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
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 35 peer-review research articles pertaining to personal genomics, genomic medicine, pharmacogenomics, drug discovery, bioinformatics, and evolutionary genomics. Joel is currently the Director of Informatics at NuMedii, a biopharmaceutical company he co-founded, and also holds a position as Consulting Professor of Systems Medicine, in the Department of Pediatrics at Stanford University. Joel 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.
