Genetic & Genomic MedicinemedRxivPreprint
Long-Read Sequencing Increases Diagnostic Yield for Pediatric Sensorineural Hearing Loss
Shelby E. Redfield, Wanqing Shao, Tieqi Sun…·Aiden Eliot Shearer
This study evaluates the diagnostic yield of long-read sequencing in pediatric sensorineural hearing loss, finding it detects structural variants missed by short-read sequencing.
DOI 10.1101/2024.09.30.24314377