Clinical genomics

Shashikant Kulkarni, John Pfeifer

Research output: Book/ReportBookpeer-review

6 Scopus citations


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.

Original languageEnglish
PublisherElsevier Inc.
Number of pages470
ISBN (Electronic)9780124051737
ISBN (Print)9780124047488
StatePublished - Nov 7 2014


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