9780124047488

Clinical Genomics

  • ISBN 13:

    9780124047488

  • ISBN 10:

    0124047483

  • Edition: 1st
  • Format: Hardcover
  • Copyright: 11/01/2014
  • Publisher: Academic Pr

Note: Not guaranteed to come with supplemental materials (access cards, study guides, lab manuals, CDs, etc.)

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Summary

This book provides an overview of the various NGS technologies that are currently utilized 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. The work is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. The final sections of the book 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 will get paid for the testing. 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 metaanalysis for full range of clinically important variants.

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