Genetic & Genomic MedicinemedRxivPreprint
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…·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.