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Article

Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.

Journal of cardiovascular translational research - 1 Feb 2013

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

Abstract excerpt

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...

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Identifiers

PMID: 22956155
DOI: 10.1007/s12265-012-9401-8
PMCID: PMC3546298

Genes

RYR2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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