Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia
Haloom Rafehi, Liam G. Fearnley, Justin L. Read, Penny Snell, Kayli C. Davies, Liam W. Scott, Greta Gillies, Genevieve C. Thompson, Tess A. Field, Aleena Eldo, Simon Bodek, Ernest Gerard Butler, Luke Chen, John Drago, Himanshu Goel, , Paul J. Lockhart
This study compares short-read and long-read sequencing for diagnosing cerebellar ataxia, finding both effective but with different strengths in repeat expansion detection.
medRxiv · Jul 8, 2024 · PreprintGenetic & Genomic Medicine