Neurogenetics (BLC)_Murdoch Children's Research Institute

Dr Paul J Lockhart
paul.lockhart@mcri.edu.au

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Dataset ID	Description	Technology	Samples
EGAD50000000815	This study evaluated the effectiveness of long- and short-read sequencing as diagnostic tools for CA. We recruited 110 individuals (48 females, 62 males) with a clinical diagnosis of CA. Short-read genome sequencing (SR-GS) was performed to identify pathogenic RE and also non-RE variants in 356 genes associated with CA. Long-read adaptive sequencing (LR-AS) was performed to identify pathogenic RE in 67 genes.	MinION unspecified	110