Article
A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.
Clinica chimica acta; international journal of clinical chemistry - 30 Jan 2016
Chanavat Valérie, Janin Alexandre, Millat Gilles
Abstract excerpt
BACKGROUND: Cardiomyopathies and arrhythmia syndromes are common genetic cardiac diseases that account for a significant number of sudden cardiac death (SCD) cases. METHODS: NGS workflow based on a panel of 95 genes was developed on Illumina NextSeq500™ sequencer for sequencing prevalent SCD-causing genes. A cohort of 90 patients (56 genotype-positive, 27 genotype-negative and 7 new cases) was screened to...
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