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  • © 2015

Genomic Applications in Pathology

  • Review the scientific principles underlying next generation genomic technologies and required bioinformatics approaches

  • Presents implementation roadmaps for various single gene, gene panels, whole exome and whole genome assays

  • Written by experts in this field

  • Provides practice recommendations and guidelines in genomic testing ?

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Table of contents (33 chapters)

  1. Front Matter

    Pages i-xv
  2. Genomic Technologies

    1. Front Matter

      Pages 1-1
    2. Emerging Next-Generation Sequencing Technologies

      • Matthew W. Anderson
      Pages 19-29
    3. Transcriptome Sequencing (RNA-Seq)

      • Sugganth Daniel, Alberto Paniz-Mondolfi, Federico A. Monzon
      Pages 31-43
    4. MiRNA Expression Assays

      • Cornelia Braicu, Beatriz M. Maia, Ioana Berindan-Neagoe, George A. Calin
      Pages 45-70
    5. Circulating Tumor Cells: Enrichment and Genomic Applications

      • Marija Balic, Richard J. Cote
      Pages 71-84
  3. Practice Related Aspects of Clinical Genomics

    1. Front Matter

      Pages 99-99
    2. Genomic Pathology: Training for New Technology

      • Richard L. Haspel
      Pages 101-110
    3. Implementation of Genome Sequencing Assays

      • Joshua L. Deignan
      Pages 111-118
    4. Patents and Proprietary Assays

      • Roger D. Klein
      Pages 129-139
    5. Ethical Issues in Clinical Genetics and Genomics

      • Henry T. Greely
      Pages 141-155
  4. Clinical Implementation of Diagnostic Genomics

    1. Front Matter

      Pages 157-157
    2. Bioinformatics Tools in Clinical Genomics

      • David K. Crockett, Karl V. Voelkerding
      Pages 177-196
    3. Next Generation Sequencing for Single-Gene Analysis

      • Hao Ho, Christopher D. Gocke
      Pages 197-207
    4. Next-Generation Sequencing for Gene Panels

      • Michael O. Dorschner
      Pages 209-223
    5. Implementation of Exome Sequencing Assay

      • Arunkanth Ankala, Madhuri R. Hegde
      Pages 225-240

About this book

Genomic Applications in Pathology provides a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays are discussed together with issues related to reporting, including the pathologist’s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms are detailed, as well as genomic applications in pharmacogenomics, inherited genetic diseases, and infectious diseases. The latest iteration of practice recommendations and guidelines in genomic testing, put forth by stakeholder professional organizations such as the Association for Molecular Pathology  and the College of American Pathologists, are also discussed in the volume, as well as regulatory issues and laboratory accreditation related to genomic testing.

Written by experts in the field, Genomic Applications in Pathology provides a comprehensive resource that is of great value to practicing molecular pathologists, hematopathologists, other subspecialized pathologists, general pathologists, pathology trainees, oncologists, and geneticists.​

Editors and Affiliations

  • Departments of Pathology, Oncology and Urology, Johns Hopkins University, Baltimore, USA

    George Jabboure Netto

  • Department of Pathology, Stanford University School of Medicine, Stanford, USA

    Iris Schrijver

About the editors

George Jabboure Netto, MD
Johns Hopkins University, Department of Pathology, Baltimore, MD, USA.

Iris Schrijver, MD
Stanford University School of Medicine, Department of Pathology, Stanford, CA, USA.

Bibliographic Information

  • Book Title: Genomic Applications in Pathology

  • Editors: George Jabboure Netto, Iris Schrijver

  • DOI: https://doi.org/10.1007/978-1-4939-0727-4

  • Publisher: Springer New York, NY

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer Science+Business Media New York 2015

  • Softcover ISBN: 978-1-4939-4647-1Published: 24 September 2016

  • eBook ISBN: 978-1-4939-0727-4Published: 16 September 2014

  • Edition Number: 1

  • Number of Pages: XV, 622

  • Number of Illustrations: 6 b/w illustrations, 79 illustrations in colour

  • Topics: Pathology, Oncology, Laboratory Medicine, Human Genetics

Buy it now

Buying options

eBook USD 189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 239.00
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access