Amino acid –level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise

Due to rapid expansion of clinical genetic testing, an increasing number of genetic variants of undetermined significance and unclear diagnostic value are being identified in children. Variants found in genes associated with heritable channelopathies, such as long QT syndrome (LQTS), are particularly difficult to interpret given the risk of sudden cardiac death associated with pathologic mutations.

Source: Heart Rhythm - March 1, 2018 Category: Cardiology Authors: Andrew P. Landstrom, Ernesto Fernandez, Jill A. Rosenfeld, Yaping Yang, Andrew L. Dailey-Schwartz, Christina Y. Miyake, Hugh D. Allen, Daniel J. Penny, Jeffrey J. Kim Source Type: research