ABSTRACT

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. Computational Exome and Genome Analysis 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.

part |38 pages

Raw Data Processing

part |133 pages

Variant Calling

chapter 13|20 pages

Variant Call Format (VCF)

chapter 14|6 pages

Jannovar

chapter 15|19 pages

Variant Annotation