Clinical Genomics

Nonfiction, Health & Well Being, Medical, Medical Science, Genetics, Science & Nature, Science, Biological Sciences
Cover of the book Clinical Genomics by , Elsevier Science
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Author: ISBN: 9780124051737
Publisher: Elsevier Science Publication: November 10, 2014
Imprint: Academic Press Language: English
Author:
ISBN: 9780124051737
Publisher: Elsevier Science
Publication: November 10, 2014
Imprint: Academic Press
Language: English

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.

  • 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
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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.

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