Key result
Whole exome sequencing identified a likely causal genetic variant in 28% of cases of sudden death in the young, demonstrating that combined forensic and molecular autopsies maximize diagnostic yield.
Why the study?
Does whole exome sequencing improve the identification of genetic causes in cases of sudden death in the young compared to traditional autopsy or gene panels?
Population
50 cases of sudden unexpected or unexplained death in individuals <45 years old, predominantly from San…
Comparison
Whole exome sequencing of the proband and… vs Simulated gene panel for cardiac disease and…
Design
Cohort
Authors
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Supports molecular autopsy integration in sudden death evaluations; leaves open large-scale aggregation for refined variant classification and family screening.
Observational (n=50)
Yes
Does whole exome sequencing improve the identification of genetic causes in cases of sudden death in the young compared to traditional autopsy or gene panels?
Whole exome sequencing as a molecular autopsy can identify potential genetic and mitochondrial causes of sudden death in the young, highlighting the need for large-scale data aggregation to improve variant classification.
Rueda et al. (2017) conducted an observational in Sudden death in the young (SDY) (n=50). Whole exome sequencing (WES) vs. Targeted gene panel (simulated) was evaluated on Identification of a likely causal genetic variant (positive molecular autopsy). Whole exome sequencing identified a likely causal genetic variant in 28% of cases of sudden death in the young, demonstrating that combined forensic and molecular autopsies maximize diagnostic yield.
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