Genomic Triangulation in Sudden Unexplained Death in the Young
The Way to Go?
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The use of next-generation sequencing techniques in the exploration of monogenic causes of disease has greatly increased in the recent years, and it is now possible to cover the whole exome with great precision and at low cost within days. The implementation of the next-generation sequencing techniques and target gene panels in clinical laboratories has not only improved the screening for genetic causes in patients with a distinct disease associated phenotype but also opened up for unraveling the causes of sudden unexplained death in the young. In this group, whole-exome sequencing used as molecular autopsy can be a supplement to especially negative or inconclusive autopsies. In several studies, either targeted gene panels focusing on channelopathies or whole-exome sequencing has been used to …