| Description |
1 online resource : text file, PDF |
| Series |
Chapman & Hall/CRC Mathematical and Computational Biology |
|
Chapman and Hall/CRC mathematical & computational biology series
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| Contents |
Part 1. Introduction. Chapter 1. Introduction -- Chapter 2. NGS technology -- Chapter 3. Illumina technology -- Chapter 4. Data -- Part 2. Raw data processing. Chapter 5. FASTQ -- Chapter 6. Q/C: Raw data -- Chapter 7. Q/C: Trimming -- Part 3. Alignment. Chapter 8. Alignment -- Chapter 9. SAM/BAM -- Chapter 10. Postprocessing the alignment -- Chapter 11. Alignment data: Quality control -- Part 4. Variant calling. Chapter 12. Variant calling & quality-based filtering -- Chapter 13. VCF -- Chapter 14. Jannovar -- Chapter 15. Variant annotation -- Chapter 16. Variant calling QC -- Chapter 17. Integrative genomics viewer -- Chapter 18. De novo variants -- Chapter 19. Structural variation -- Part 5. Variant filtering. Chapter 20. Pedigree analysis -- Chapter 21. Intersection and RVAS analysis -- Chapter 22. Variant frequency -- Chapter 23. Variant pathogenicity -- Part 6. Prioritization. Chapter 24. Prioritization -- Chapter 25. Random walk -- Chapter 26. Phenotype analysis -- Chapter 27. Exomiser -- Chapter 28. Medical interpretation -- Part 7. Cancer. Chapter 29. A (very) short introduction to cancer -- Chapter 30. Somatic variants -- Chapter 31. Tumor evolution and sample purity -- Chapter 32. Driver mutations and mutational signatures -- Appendix A. Hints and answers |
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Cover; Half Title; Series Editor; Published Titles; Title; Copyright; Dedication; Contents; Who is this book for?; Preface; Contributors; Part I Introduction; Chapter 1 Introduction: Whole Exome and Genome Sequencing; Chapter 2 NGS Technology; Chapter 3 Illumina Technology; Chapter 4 Data; Part II Raw Data Processing; Chapter 5 FASTQ Format; Chapter 6 Raw Data: Quality Control; Chapter 7 Trimming; Part III Alignment; Chapter 8 Alignment: Mapping Reads to the Reference Genome; Chapter 9 SAM/BAM Format; Chapter 10 Postprocessing the Alignment; Chapter 11 Alignment Data: Quality Control |
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Part IV Variant CallingChapter 12 Variant Calling and Quality- Based Filtering; Chapter 13 Variant Call Format (VCF); Chapter 14 Jannovar; Chapter 15 Variant Annotation; Chapter 16 Variant Calling: Quality Control; Chapter 17 Integrative Genomics Viewer (IGV): Visualizing Alignments and Variants; Chapter 18 De Novo Variants; Chapter 19 Structural Variation; Part V Variant Filtering ; Chapter 20 Pedigree and Linkage Analysis; Chapter 21 Intersection Analysis and Rare Variant Association Studies; Chapter 22 Variant Frequency Analysis; Chapter 23 Variant Pathogenicity Prediction |
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Part VI PrioritizationChapter 24 Variant Prioritization; Chapter 25 Prioritization by Random Walk Analysis; Chapter 26 Phenotype Analysis; Chapter 27 Exomiser and Genomiser; Chapter 28 Medical Interpretation; Part VII Cancer; Chapter 29 A (Very) Short Introduction to Cancer; Chapter 30 Somatic Variants in Cancer; Chapter 31 Tumor Evolution and Sample Purity; Chapter 32 Driver Mutations and Mutational Signatures; Appendix A Hints and Answers; References ; Index |
| Summary |
"Exome and genome sequencing are revolutionizing medical research and diagnostics, but the computational analysis of the data has become an extremely heterogeneous and often challenging area of bioinformatics. This book provides a practical introduction to all of the major areas in the field, enabling readers to develop a comprehensive understanding of the sequencing process and the entire computational analysis pipeline."--Provided by publisher |
| Subject |
Exomes.
|
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Genomes -- Analysis
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Genomes.
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Exome
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Genome
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Computational Biology -- methods
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Sequence Analysis, DNA
|
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SCIENCE -- Life Sciences -- Biology -- General.
|
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SCIENCE -- Biotechnology.
|
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SCIENCE -- Life Sciences -- Biochemistry.
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Genomes
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Exomes
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| Form |
Electronic book
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| Author |
Piro, Rosario M
|
|
Jäger, Marten
|
| ISBN |
9781315154770 |
|
1315154773 |
|
9781498775991 |
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1498775993 |
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