Long-Read Sequencing Increases Diagnostic Yield for Pediatric Sensorineural Hearing Loss
Shelby E. Redfield, Wanqing Shao, Tieqi Sun, Adrian Pastolero, William J. Rowell, Courtney E. French, Cillian Nolan, James Holt, Christopher T. Saunders, Cairbre Fanslow, Eirini-Maria Lampraki, Christine C. Lambert, Margaret A. Kenna, Michael A. Eberle, Shira Rockowitz, 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.
medRxiv · Sep 30, 2024 · PreprintGenetic & Genomic Medicine