Why the study?
Does molecular autopsy using targeted exome sequencing improve diagnostic yield in patients with sudden arrhythmic death syndrome?
Population
Patients with sudden arrhythmic death syndrome
Design
Cross-sectional
Authors
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Cautions against routine clinical reliance on targeted molecular autopsy due to low yield; leaves open optimized sequencing strategies in research.
Does molecular autopsy using targeted exome sequencing improve diagnostic yield in patients with sudden arrhythmic death syndrome?
Targeted exome sequencing for molecular autopsy in sudden arrhythmic death syndrome has a low diagnostic yield for very rare pathogenic mutations, and common variants should be interpreted cautiously.
Nunn et al. (2015) studied this question.
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