Exploring Personal Genomics [electronic resource].
Dudley, Joel T.
Karczewski, Konrad J.
Oxford : Oxford University Press,
2013.
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 anessential component of the inevitable transition towards personalized health and medicine. As the medical establishment
Description based upon print version of record.
Cover; Contents; Foreword; Introduction; Acknowledgments; Part I; 1. A gentle introduction to genomics; 1.1 Introduction; 1.2 What is a genome?; 1.3 How does a genome work?; 1.4 Gene regulation: when and where a gene is expressed; 1.5 The human epigenome; 1.6 Replication and reproduction; 1.7 Genetic variation; 2. Practical and ethical considerations in personal genomics; 2.1 Considerations when obtaining personal genomic information; 2.2 Limitations of personal genomics; 2.3 Risks of personal genomics; 2.4 Summary; 3. Getting started with personal genomics
3.1 Obtaining personal genomic information3.2 From DNA to "raw" data; 3.3 Working with personal genomic data; 3.4 Conclusion; 4. Visualizing personal genomics; 4.1 Introduction; 4.2 Tabular views; 4.3 Ideograms; 4.4 Genome browsers; 4.5 Visual quantitative assessment; 4.6 Integrative visualizations; 4.7 Conclusion; 5. Ancestry and genealogy; 5.1 The genetics of human ancestry; 5.2 Global genetic similarity; 5.3 Genetic similarity between individuals; 5.4 Identity by descent; 5.5 Familial lineages; 5.6 Genetic anthropology and ancient human DNA; 5.7 Conclusions; 6. Genetic trait associations
6.1 Introduction6.2 Discovery of genetic trait associations; 6.3 Genetic disease associations; 6.4 Application and interpretation of genetic associations; 6.5 Quantitative trait inference; 6.6 Summary; 7. Pharmacogenomics; 7.1 What is pharmacogenomics?; 7.2 Mapping common pharmacogenomic variants; 7.3 Major applications of pharmacogenomics; 7.4 Assessment of rare variants in PD/PK genes; 7.5 Variation in pharmacogenomic pathways; 7.6 Conclusion; Part II; 8. Personal genomics and the environment; 8.1 Introduction; 8.2 Nutritional genomics; 8.3 Environmental toxins
8.4 Metagenomics and infectious disease8.5 Identifying personal genetic risk modifiers; 8.6 Summary; 9. From DNA to physiology; 9.1 Introduction; 9.2 Bridging DNA and physiology through gene regulation; 9.3 Creating personal genomic eQTL profiles; 9.4 Personal genomic eQTL enrichment analysis; 9.5 Functional assessment of personal genomic regulatory variants; 9.6 Linking to further aspects of physiology; 9.7 Summary; 10. Rare and novel variants; 10.1 General challenges; 10.2 Compound heterozygosity; 10.3 Evolutionary conservation; 10.4 Rare variants in coding regions
10.5 Rare variants in non-coding regions10.6 Practical application of rare variant assessment tools; 10.7 Further challenges; 11. Structural variation; 11.1 Copy number variation; 11.2 More complex events (insertions, inversions, translocations); 11.3 Challenges; Conclusion; Glossary; A; B; C; D; E; F; G; H; I; K; L; M; N; O; P; R; S; T; Index; A; B; C; D; E; F; G; H; I; J; K; L; M; N; O; P; R; S; T; U; V; W; X; Y; Z
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 anessential component of the inevitable transition towards personalized health and medicine. As the medical establishment
Includes bibliographical references and index.
Description based on print version record.
Genomics
Genomics.
Genetics, Medical.
Precision Medicine.