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Principles and clinical applications of next-generation DNA sequencing

Peter J Hulick, MD, MMSc, FACMG
Section Editor
Benjamin A Raby, MD, MPH
Deputy Editor
Jennifer S Tirnauer, MD


Technologies for sequencing DNA have improved dramatically, to the point that it has become practical to sequence an individual’s entire genome. Next-generation sequencing (NGS) is a type of DNA sequencing technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has allowed a dramatic increase in the speed (and a decrease in the cost) at which an individual's genome can be sequenced.

The ability to sequence an entire genome raises several challenging questions for the clinician, including the following:

When should NGS be considered clinically?

What is the best choice among several types of genetic testing available?

What is the clinical significance of findings from sequencing of an entire genome?


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Literature review current through: Sep 2016. | This topic last updated: Jul 18, 2016.
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