Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young [Original Articles]
Conclusions—
Molecular screening in this clinical scenario is appropriate with a pathogenic mutation detection rate of 44% using direct DNA sequencing followed by whole-exome sequencing. Only 5 of the 100 interrogated sudden death genes hosted actionable pathogenic mutations for more than one third of these exertion-related, autopsy-negative SUDY cases.
Source: Circulation: Cardiovascular Genetics - Category: Cardiology Authors: Anderson, J. H., Tester, D. J., Will, M. L., Ackerman, M. J. Tags: Sudden Cardiac Death, Ion Channels/Membrane Transport, Pediatrics, Genetics Original Articles Source Type: research
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