Exploring Personal Genomics

ISBN-10: 0199644497
ISBN-13: 9780199644490
Edition: 2013
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Book details

Copyright year: 2013
Publisher: Oxford University Press
Publication date: 1/3/2013
Binding: Paperback
Pages: 296
Size: 7.25" wide x 9.25" long x 0.75" tall
Weight: 0.902
Language: English

Foreword
Introduction
Acknowledgments
A gentle introduction to genomics
Introduction
What is a genome?
How does a genome work?
Gene regulation: when and where a gene is expressed
The human epigenome
Replication and reproduction
Genetic variation
Practical and ethical considerations in personal genomics
Considerations when obtaining personal genomic information
Limitations of personal genomics
Risks of personal genomics
Summary
Getting started with personal genomics
Obtaining personal genomic information
From DNA to "raw" data
Working with personal genomic data
Conclusion
Visualizing personal genomics
Introduction
Tabular views
Ideograms
Genome browsers
Visual quantitative assessment
Integrative visualizations
Conclusion
Ancestry and genealogy
The generics of human ancestry
Global genetic similarity
Genetic similarity between individuals
Identity by descent
Familial lineages
Genetic anthropology and ancient human DNA
Conclusions
Genetic trait associations
Introduction
Discovery of genetic trait associations
Genetic disease associations
Application and interpretation of genetic associations
Quantitative trait inference
Summary
Pharmacogenomics
What is pharmacogenomics?
Mapping common pharmacogenomic variants
Major applications of pharmacogenomics
Assessment of rare variants in PD/PK genes
Variation in pharmacogenomic pathways
Conclusion
Personal genomics and the environment
Introduction
Nutritional genomics
Environmental toxins
Metagenomics and infectious disease
Identifying personal genetic risk modifiers
Summary
From DNA to physiology
Introduction
Bridging DNA and physiology through gene regulation
Creating personal genomic eQTL profiles
Personal genomic eQTL enrichment analysis
Functional assessment of personal genomic regulatory variants
Linking to further aspects of physiology
Summary
Rare and novel variants
General challenges
Compound heterozygosity
Evolutionary conservation
Rare variants in coding regions
Rare variants in non-coding regions
Practical application of rare variant assessment tools
Further challenges
Structural variation
Copy number variation
More complex events (insertions, inversions, translocations)
Challenges
Conclusion
Glossary
Index

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