Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels

Next-generation sequencing (NGS) technology has rapidly replaced Sanger sequencing in the assessment of sequence variations in clinical genetics laboratories. One major limitation of current NGS approaches is the ability to detect copy number variations (CNVs) greater than approximately 50bp. Since these represent a major mutational burden in many genetic disorders, parallel CNV assessment using alternate supplemental methods, along with the NGS analysis, is normally required resulting in increased labor, costs, and turnaround times.

Source: Journal of Molecular Diagnostics - August 14, 2017 Category: Pathology Authors: Jennifer Kerkhof, Laila C. Schenkel, Jack Reilly, Sheri McRobbie, Erfan Aref-Eshghi, Alan Stuart, C. Anthony Rupar, Paul Adams, Robert A. Hegele, Hanxin Lin, David Rodenhiser, Joan Knoll, Peter J. Ainsworth, Bekim Sadikovic Tags: Regular Article Source Type: research