Why the study?
Does whole exome sequencing identify a genetic cause of sudden death in a young person with an inconclusive autopsy?
Population
1 previously healthy 16-year-old adolescent female found deceased in her bedroom with an inconclusive autopsy
Design
Case_report
Authors
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Hypothesis-generating for exome sequencing after inconclusive autopsy in young sudden death; prospective studies needed before routine adoption.
Does whole exome sequencing identify a genetic cause of sudden death in a young person with an inconclusive autopsy?
Whole exome sequencing can identify actionable genetic markers for sudden unexplained death in young individuals, aiding in postmortem examination and familial risk assessment.
Loporcaro et al. (2013) studied this question.
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