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Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies

Modern Pathology Aug 09, 2017

Gaut JP, et al. – This research aspired to assess the clinical utility of exome–based next–generation sequencing for the analysis of patients with thrombotic microangiopathies. The expected diagnostic yield in the setting of thrombotic microangiopathies through the application of standardized variant interpretation along with the utility of such an approach was demonstrated in this study. Sequencing a clinically enhanced exome to enable targeted, disease–specific variant analysis appeared to be a viable approach. The moderate rate of variants of uncertain clinical importance underscored the lack of data surrounding the variants. The results displayed the necessity for expanded variant curation resources to assist in the thrombotic microangiopathy–related disease variant classification.
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