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Husemann, Peter; Tauch, Andreas: Bioinformatic approaches for genome finishing. 2011
Inhalt
1 Introduction
2 Sequencing Technologies -- Biological Background
2.1 DNA -- The Backbone of Life on Earth
2.2 Technologies to Assess the Sequence of DNA
2.2.1 Traditional: Sanger Sequencing
2.2.2 The `Next' Generation: Massively Parallel Sequencing
2.2.3 Third Generation: Single Molecule Sequencing
2.3 Genome Sequencing
2.3.1 Shotgun Sequencing
2.3.2 Assembly Phase
2.3.3 Genome Finishing
3 Efficient Matching of Contigs
3.1 Finding Local Similarities
3.1.1 Smith-Waterman
3.1.2 Seed and Extend Heuristics
3.1.3 Search Space Filtering
3.2 Matching by Filtering with q-Grams
3.2.1 General Idea
3.2.2 Building an Index of the Reference Genome
3.2.3 Filtering for Similarities
3.3 r2cat -- The Related Reference Contig Arrangement Tool
3.3.1 Matching
3.3.2 Visualization
3.3.3 Simple Contig Mapping
4 Advanced Contig Layouting using Multiple Reference Genomes
4.1 The Contig Adjacency Graph
4.1.1 Notation
4.1.2 Weighting the Adjacency Edges
4.1.3 Creating a Basic Contig Adjacency Graph
4.2 Finding a Layout of the Contigs
4.2.1 Traveling Salesman Tour Through the Graph
4.2.2 Fast Adjacency Discovery Algorithm
4.3 Enhancements of the Graph Creation
4.3.1 Including Phylogenetic Distances
4.3.2 Integrating Additional Information
4.4 Variations of the Contig Layouting
4.4.1 Handling Rearrangements
4.4.2 Repeat-aware Layouting
5 Realization of the Software
5.1 Implementational Milestones
5.1.1 r2cat
5.1.2 treecat
5.1.3 repcat
5.1.4 htscat
5.2 External Software and Libraries
5.2.1 FreeHEP Graphics Export
5.2.2 Graphviz
5.2.3 NetBeans Platform
5.2.4 Prefuse Graph Visualization
6 Layouting Corynebacteria Contigs
6.1 Background and Preparatory Steps
6.1.1 Description of the Datasets
6.1.2 Determining a Reference Layout
6.1.3 Parameter Estimation for the Contig Adjacency Graph
6.1.4 Other Software for Contig Layouting
6.2 Evaluation on Real Sequencing Data
6.2.1 Single Reference Based Ordering
6.2.2 Multiple Reference Based Layouting
6.2.3 Layouting Repetitive Contigs
7 Summary and Outlook
Acknowledgments
Bibliography