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.
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Titolo: Clinical Genomics
Autori: Kulkarni - Pfeifer
Editore: Elsevier - Academic Press
Misure: 21x27 cm
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