"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 paradigmTried and tested practice-based analysis for
precision diagnosis and treatment plansSpecific pipelines and
meta-analysis for full range of clinically important variants
General
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