Whole exome and whole genome sequencing : Current Opinion in Pediatrics (original) (raw)
Genetics: Edited by Nathaniel H. Robin
Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA
Correspondence to David Bick, MD, Department of Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USATel: +1 414 266 2979; e-mail: [email protected]
Abstract
Purpose of review
The purpose of this review is to describe the new DNA sequencing technologies referred to as next-generation sequencing (NGS). These new methods are becoming central to research in human disease and are starting to be used in routine clinical care.
Recent findings
Advances in instrumentation have dramatically reduced the cost of DNA sequencing. An individual's entire genome can now be sequenced for $7500. In addition, the software needed to analyze and help interpret this data is rapidly improving. This technology has been used by researchers to discover new genetic disorders and new disease associations. In the clinic, it can define the etiology in patients with undiagnosed genetic disorders and identify mutations in a cancer to help guide chemotherapy.
Summary
Here we discuss how whole-exome sequencing and whole-genome sequencing are used in basic research and clinical care. These new techniques promise to speed research and affect how healthcare is delivered.
© 2011 Lippincott Williams & Wilkins, Inc.