Uncovering the mystery behind sudden cardiac deaths with long read sequencing on PromethION
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Inherited cardiac disorders remain a significant cause of sudden cardiac death, yet identifying their underlying genetic basis can be challenging, particularly when disease-causing variants reside in complex regions of the genome.
In this webinar, Polona Le Quesne Stabej and Zoe Ward from the University of Auckland discuss their research into DMPK repeat expansions and their role in inherited cardiac disease. Learn how long-read sequencing on the PromethION 2 Integrated enabled the detection of a pathogenic repeat expansion that was missed by conventional genomic testing approaches.
