Uncovering Hidden Genetic Causes of Sudden Cardiac Death With Long-Read Sequencing

Uncovering Hidden Genetic Causes of Sudden Cardiac Death With Long-Read Sequencing Many inherited cardiac disorders remain genetically unresolved because disease-causing variants can be hidden within complex regions of the genome that are difficult to characterize using conventional short-read sequencing approaches. This webinar explores how long-read sequencing was used to identify a pathogenic dystrophia myotonica protein kinase (DMPK) repeat expansion associated with inherited cardiac disease and sudden cardiac death after previous testing failed to find a diagnosis. Join researchers from the University of Auckland as they discuss the biology of repeat expansion disorders, practical considerations for genomic investigation, and the potential role of repeat expansion analysis in diagnostic and post-mortem workflows. Attend this webinar to: Understand the molecular genetics of DMPK repeat expansions and their contribution to inherited cardiac disease Explore the advantages of using Oxford Nanopore long-read sequencing for the detection of repeat expansion disorders that are missed by conventional genomic approaches Learn how repeat expansion testing can be incorporated into clinical and post-mortem genomic investigations of unexplained cardiac disease Polona Le Quesne Stabej, PhD Senior Research Fellow The University of Auckland Zoe Ward, PhD Research Fellow University of Auckland