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