
Genome Sequencing Technology and Algorithms
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Content
- Genome Sequencing Technolog and Algorithms
- List of Contributors
- Contents
- Part I The New DNA Sequencing Technology
- 1 An Overview of New DNA Sequencing Technology
- 1.1 An Overview
- 1.2 Massively Parallel Sequencing by Synthesis Pyrosequencing
- 1.3 Massively Parallel Sequencing by Other Approaches
- 1.4 Survey of Future Massively Parallel Sequencing Methods
- 2 Array-Based Pyrosequencing Technology
- 2.1 Introduction
- 2.2 Pyrosequencing Chemistry
- 2.3 Array-Based Pyrosequencing
- 2.4 454 Sequencing Chemistry
- 2.5 Applications of 454 Sequencing Technology
- 2.6 Advantages and Challenges
- 2.7 Future of Pyrosequencing
- 3 The Role of Resequencing Arrays in RevolutionizingDNA Sequencing
- 3.1 Introduction
- 3.2 DNA Sequencing by Hybridization with ResequencingArrays
- 3.3 Resequencing Array Experimental Protocols
- 3.4 Analyzing Resequencing Array Data with ABACUS
- 3.5 Review of RA Applications
- 3.6 Further Challenges
- 4 Polony Sequencing
- 4.1 Introduction
- 4.2 Overview
- 4.3 Construction of Sequencing Libraries
- 4.4 Template Amplification with Emulsion PCR
- 4.5 Sequencing
- 4.6 Future Directions
- 5 Genome Sequencing: A Complex Path to PersonalizedMedicine
- 5.1 Introduction
- 5.2 Personalized Medicine
- 5.3 Heterogeneous Data Sources
- 5.4 Information Modeling
- 5.5 Ontologies and Terminologies
- 5.6 Applications
- 5.7 Conclusion
- Part II Genome Sequencing and Fragment Assembly
- 6 Overview of Genome Assembly Techniques
- 6.1 Genome Sequencing by Shotgun-Sequencing Strategy
- 6.2 Trimming Vector and Low-Quality Sequences
- 6.3 Fragment Assembly
- 6.4 Assembly Validation
- 6.5 Scaffold Generation
- 6.6 Finishing
- 6.7 Three Strategies for Whole-Genome Sequencing
- 6.8 Discussion
- 7 Fragment Assembly Algorithms
- 7.1 TIGR Assembler
- 7.2 Phrap
- 7.3 CAP3
- 7.4 Celera Assembler
- 7.5 Arachne
- 7.6 EULER
- 7.7 Other Approaches to Fragment Assembly
- 7.8 Incompleteness of the Survey
- 8 Assembly for Double-Ended Short-Read SequencingTechnologies
- 8.1 Introduction
- 8.2 Short-Read Sequencing Technologies
- 8.3 Assembly for Short-Read Sequencing
- 8.4 Developing a Short-Read-Pair Assembler
- Part III Beyond Conventional Genome Sequencing
- 9 Genome Characterization in the Post-Human GenomeProject Era
- 9.1 Genome Resequencing and Comparative Assembly
- 9.2 Genotyping Versus Haplotyping
- 9.3 Large-Scale Genome Variations
- 9.4 Epigenomics: Genetic Variations Beyond GenomeSequences
- 9.5 Conclusion
- 10 The Haplotyping Problem: An Overview ofComputational Models and Solutions
- 10.1 Introduction
- 10.2 Preliminary Definitions
- 10.3 Inferring Haplotypes in a Population
- 10.4 Inferring Haplotypes in Pedigrees
- 10.5 Inferring Haplotypes from Fragments
- 10.6 A Glimpse over Statistical Methods
- 10.7 Discussion
- 11 Analysis of Genomic Alterations in Cancer
- 11.1 Introduction
- 11.2 Analysis of ESP Data
- 11.3 Combination of Techniques
- 11.4 Future Directions
- 12 High-Throughput Assessments of Epigenomics inHuman Disease
- 12.1 Introduction
- 12.2 Epigenetic Phenomena That Regulate Gene Expression
- 12.3 Epigenetics and Disease
- 12.4 High-Throughput Analyses of Epigenetic Phenomena
- 12.5 Conclusions
- 13 Comparative Sequencing, Assembly, and Anchoring
- 13.1 Comparing an Assembled Genome with AnotherAssembled Genome
- 13.2 Mutual Comparison of Genome Fragments
- 13.3 Comparing an Assembled Genome with GenomeFragments
- 13.4 Anchoring by Seed-and-Extend Versus PositionalHashing Methods
- 13.5 The UD-CSD Benchmark for Anchoring
- 13.6 Conclusions
- About the Authors
- Index
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