Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases.
作者： Najim Lahrouchi , Elijah R. Behr , Connie R. Bezzina
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摘要: Sudden cardiac death (SCD) in the young (<40 years) occurs setting of a variety rare inherited disorders and is disastrous event for family members. Establishing cause SCD important as it permits pre-symptomatic identification relatives at risk SCD. arrhythmic syndrome (SADS) defined negative autopsy findings toxicological analysis. In such cases, reaching diagnosis even more challenging post-mortem genetic testing can crucially contribute to underlying death. this review, we will discuss current achievements "the molecular autopsy" SADS cases provide an overview key challenges assessing pathogenicity (i.e., causality) variants identified through next-generation sequencing.
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