Yield of Long-Read Genome Sequencing for Rare Disease Diagnosis in Short-Read Genome Negative Cases
Georgia Pitsava, Krista K. Bluske, Rebekah Barrick, Ivan De Dios, Cathy Duong, Kirsten Blanco, Sami Belhadj, Nida Karra, Sarah L. Stenton, Arthur Garcia, Erica Smith, Miguel Almalvez, Arthur Ko, John Harting, Stuti Joshi, , Eric J. N. Vilain
This study evaluates the diagnostic yield of long-read genome sequencing in cases where short-read sequencing failed, finding an incremental yield of 4.7% due to LR-GS's ability to detect structural variants and other complex genomic features.
medRxiv · Sep 10, 2026 · PreprintGenetic & Genomic Medicine