Clinical Genomics - Hardcover

Hardcover

ISBN 10: 0124047483 ISBN 13: 9780124047488

Publisher: Academic Press, 2014

Synopsis

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

About this title

Review:

Reviews high throughput translational genomic sequencing for diagnosis, prognosis and precision management of inherited and somatic disorders

About the Author:

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.

About this edition

• Publisher: Academic Press
• Publication date: 2014
• ISBN 10: 0124047483
• ISBN 13: 9780124047488
• Binding: Hardcover
• Edition number: 1
• Number of pages: 488
• Editor: Kulkarni Shashikant, Pfeifer John