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.