Ontology highlight
ABSTRACT:
SUBMITTER: Ware JS
PROVIDER: S-EPMC3546298 | biostudies-literature | 2013 Feb
REPOSITORIES: biostudies-literature
Ware James S JS John Shibu S Roberts Angharad M AM Buchan Rachel R Gong Sungsam S Peters Nicholas S NS Robinson David O DO Lucassen Anneke A Behr Elijah R ER Cook Stuart A SA
Journal of cardiovascular translational research 20120907 1
Next-generation sequencing (NGS) provides an unprecedented opportunity to assess genetic variation underlying human disease. Here, we compared two NGS approaches for diagnostic sequencing in inherited arrhythmia syndromes. We compared PCR-based target enrichment and long-read sequencing (PCR-LR) with in-solution hybridization-based enrichment and short-read sequencing (Hyb-SR). The PCR-LR assay comprehensively assessed five long-QT genes routinely sequenced in diagnostic laboratories and "hot sp ...[more]