Clinical Genomics

1st Edition

Editors: Shashikant Kulkarni John Pfeifer
Hardcover ISBN: 9780124047488
eBook ISBN: 9780124051737
Imprint: Academic Press
Published Date: 1st October 2014
Page Count: 488
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Description

Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important.

This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing.

Key Features

  • Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm
  • Tried and tested practice-based analysis for precision diagnosis and treatment plans
  • Specific pipelines and meta-analysis for full range of clinically important variants

Readership

Clinical Genomicists, Molecular Pathologists, molecular Geneticists, clinical Cytogeneticists, Clinical Geneticists, Primary Care Physicians (including Oncologists, Pediatricians, Neurologists, Cardiologists, and Neonatologists) and Genetic Counselors seeking to use or interpret Next Gen Sequencing in the diagnosis, prognosis, and management of inherited and somatic disorders in the era of precision medicine.

Table of Contents

  • Dedication
  • List of Contributors
  • Foreword

    • Reference
  • Preface
  • Acknowledgments
  • Section I: Methods

    • Chapter 1. Overview of Technical Aspects and Chemistries of Next-Generation Sequencing

      • Clinical Molecular Testing: Finer and Finer Resolution
      • Sanger Sequencing
      • Cyclic Array Sequencing
      • Illumina Sequencing
      • SOLiD Sequencing
      • Ion Torrent Sequencing
      • Roche 454 Genome Sequencers
      • Third-Generation Sequencing Platforms
      • References
    • Chapter 2. Clinical Genome Sequencing

      • Key Concepts
      • Introduction
      • Applications and Test Information
      • Laboratory Process, Data Generation, and Quality Control
      • Conclusion
      • References
    • Chapter 3. Targeted Hybrid Capture Methods

      • Key Concepts
      • Introduction
      • Basic Principles of Hybrid Capture-Based NGS
      • Hybrid Capture-Based Target Enrichment Strategies
      • Clinical Applications of Target Capture Enrichment
      • Variant Detection
      • Practical and Operational Considerations
      • Conclusions
      • References
    • Chapter 4. Amplification-Based Methods

      • Introduction
      • Principles of Amplification-Based Targeted NGS
      • Nucleic Acids Preparation
      • Primer Design for Multiplex PCR
      • Library Preparation and Amplification
      • Other Amplification-Based Target Enrichment Approaches
      • Comparison of Amplification- and Capture-Based Methods
      • Clinical Applications
      • Conclusion
      • References
    • Chapter 5. Emerging DNA Sequencing Technologies

      • Key Concepts
      • Introduction
      • Third-Generation Sequencing Approaches
      • Fourth-Generation Sequencing
      • Selected Novel Technologies
      • Summary
      • References
    • Chapter 6. RNA-Sequenc

Details

No. of pages:
488
Language:
English
Copyright:
© Academic Press 2015
Published:
Imprint:
Academic Press
eBook ISBN:
9780124051737
Hardcover ISBN:
9780124047488

About the Editor

Shashikant Kulkarni

Dr. Shashikant Kulkarni is the Head of Clinical Genomics, Genomics and Pathology Services and also the Director of Cytogenomics and Molecular Pathology at Washington University School of Medicine. In addition, he is Associate Professor of Pathology and Immunology, Pediatrics, and Genetics. His lab's principle research interest is delineation of novel genomic structural and single nucleotide variants in cancer.

Affiliations and Expertise

Head of Clinical Genomics, Genomics and Pathology Services, and Director of Cytogenomics and Molecular Pathology at Washington University School of Medicine

John Pfeifer

Affiliations and Expertise

Vice Chair for Clinical Affairs, Pathology and Immunology; Professor of Pathology and Immunology, Obstetrics and Gynecology at Washington University School of Medicine

Reviews

"...presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important." --Anticancer Research, February 2015