A Variant Detection Pipeline for Inherited Cardiomyopathies–Associated Genes Using Ion Torrent PGM Platform

In inherited cardiomyopathies, genetic testing is recognized as an enriching procedure in the diagnostic closure of a cardiac condition. Many genetic mutations have been described as pathogenically related to cardiomyopathies, turning next-generation sequencing into an extremely reliable scenario. Here we describe the validation process of a pipeline constructed with a target panel of 74 cardiomyopathy-related genes sequenced using a next-generation sequencing system. Fifty-two samples from a hypertrophic cardiomyopathy casuistic with previous molecular diagnostics (Sanger-sequenced for MYH7, MYBCP3, and TNNT2; 19 positives and 33 negatives) were processed in parallel with a HapMap reference sample (NA12878) applied for a complete panel assessment.

http://jmd.amjpathol.org/article/S1525-1578(15)00075-6/abstract?rss=yes

Source: Journal of Molecular Diagnostics - April 29, 2015 Category: Pathology Authors: Théo G.M. Oliveira, Miguel Mitne-Neto, Louise T. Cerdeira, Julia D.C. Marsiglia, Edmundo Arteaga-Fernandez, José E. Krieger, Alexandre C. Pereira Tags: Regular Article Source Type: research