Computational Exome and Genome Analysis

1st Edition

Peter N. Robinson, Rosario Michael Piro, Marten Jager

Chapman and Hall/CRC
Published September 11, 2017
Reference - 557 Pages - 116 Color & 23 B/W Illustrations
ISBN 9781498775984 - CAT# K29706
Series: Chapman & Hall/CRC Mathematical and Computational Biology

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    • Emphasizes the methods, approaches, and tools used to address the most important analytical challenges
    • Includes intuitive explanations of algorithms and formats required to process data, starting from the sequencing machine through quality control and alignment, variant calling, up to filtering and prioritization of results in the context of Mendelian disease and cancer.
    • Draws on the authors’ extensive experience in many areas of genomics and bioinformatics, including several exome-based disease-gene discoveries, the identification of characteristic alterations in secretory meningioma and meningeal hemangiopericytoma, as well as the development of widely-used software like the Human Phenotype Ontology and the Exomiser/Genomiser suite.


    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.


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