Clinical Genomics book cover

Clinical Genomics

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.


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.

Hardbound, 464 Pages

Published: August 2014

Imprint: Academic Press

ISBN: 978-0-12-404748-8


  • Section 1: Methods

    1. Overview of technical aspects and chemistries of NGS: Dr Robi Mitra, Washington University School of Medicine.
    2. Non-selective methods (genome-wide): Dr Mark Bogoski, Harvard Medical School
    3. Capture based methods (exome, panels) Dr Birgit Funke, Harvard Medical School
    4. Amplification based methods (panels): Dr Madhuri Hegde, Emory Medical School
    5. Emerging technologies (Nanopore and others); impact on cost and turnaround time: Dr Elaine Mardis, Washington University School of Medicine.
    6. Section 2: Bioinformatics

    7. Base calling and alignment; quality metrics; depth of coverage: Dr Carl Volkerding, University of Utah, ARUP labs
    8. Single nucleotide variants (SNVs): Dr David Spencer, Washington University School of Medicine
    9. Insertions and deletions (Indels): Drs Eric Duncavage and Haley Abel, Washington University School of Medicine
    10. Large structural alterations (big deletions, translocations, and so on): Dr Charles Mullighan, St Jude’s Cancer Institute
    11. Copy number variants (CNVs): Dr Mary-Claire King, University of Washington
    12. Section 3: Interpretation

    13. Reference data bases for disease associations: Dr Heidi Rehm, Harvard Medical School
    14. Reporting of results; level of evidence for associations; classes of associations: Dr Shashikant Kulkarni, Washington University School of Medicine
    15. Constitutional diseases (with individual chapters on hypertrophic cardiomyopathy, congenital deafness, blindness, cancer syndromes, and so on): Dr David Bick and Dr David Dimmock, Medical College of Wisconsin
    16. Cancer (with individual chapters on leukemia, lymphoma, lung cancer, colon cancer, and so on): Dr John Pfeifer, Washington University School of Medicine
    17. Section 4: Regulatory Issues

    18. Assay validation: Dr Ira Lublin, CDC and Dr Elizabeth Mansfield FDA
    19. QA/QC/PT issues: Dr Elaine Lyon, University of Utah, ARUP labs
    20. Consent and privacy issues: Dr James DuBois, Albert Gnaegi Center for Health Care Ethics
    21. Section 5: Reimbursement

    22. Billing: Andrew Drury and Kris Rickoff, Washington University School of Medicine


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