Computational Exome and Genome Analysis 1st Edition by Peter Robinson, Rosario Michael Piro, Marten Jäger ISBN 9781351650816 1351650815

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Product details:
ISBN 10: 1351650815
ISBN 13: 9781351650816
Author: Peter Robinson, Rosario Michael Piro, Marten Jäger

Computational Exome and Genome Analysis 1st Edition Table of contents:

Part I Introduction

Chapter 1 ▪ Introduction: Whole Exome and Genome Sequencing

Chapter 2 ▪ NGS Technology

Chapter 3 ▪ Illumina Technology

Chapter 4 ▪ Obtaining WES/WGS Data for This Book

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

Part IV Variant Calling

Chapter 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

Part VI Prioritization

Chapter 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

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Peter Robinson,Rosario Michael Piro,Marten Jäger,Computational Exome,Genome Analysis