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Next generation diagnostics in inherited arrhythmia syndromes

Ware, James S., John, Shibu, Roberts, Angharad M., Buchan, Rachel, Gong, Sungsam, Peters, Nicholas S., Robinson, David O., Lucassen, Anneke, Behr, Elijah R. and Cook, Stuart A. (2013) Next generation diagnostics in inherited arrhythmia syndromes Journal of Cardiovascular Translational Research, 6, (1), pp. 94-103. (doi:10.1007/s12265-012-9401-8). (PMID:22956155).

Record type: Article


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 spots" in RYR2. The Hyb-SR assay targeted 49 genes, including those in the PCR-LR assay. The sensitivity for detection of control variants did not differ between approaches. In both assays, the major limitation was upstream target capture, particular in regions of extreme GC content. These initial experiences with NGS cardiovascular diagnostics achieved up to 89 % sensitivity at a fraction of current costs. In the next iteration of these assays we anticipate sensitivity above 97 % for all LQT genes. NGS assays will soon replace conventional sequencing for LQT diagnostics and molecular pathology

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Accepted/In Press date: 7 September 2012
Published date: February 2013
Organisations: Cancer Sciences, Human Development & Health


Local EPrints ID: 342782
ISSN: 1937-5387
PURE UUID: 8c3afd7a-99ca-468a-a89d-8469284d575d

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Date deposited: 13 Sep 2012 11:47
Last modified: 18 Jul 2017 05:27

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Author: James S. Ware
Author: Shibu John
Author: Angharad M. Roberts
Author: Rachel Buchan
Author: Sungsam Gong
Author: Nicholas S. Peters
Author: David O. Robinson
Author: Anneke Lucassen
Author: Elijah R. Behr
Author: Stuart A. Cook

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