Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing
Alba Sanchis‐Juan, Yulia Mostovoy, Sarah L. Stenton, Vijay S Ganesh, Ben Weisburd, Alex Yenkin, Nehir Edibe Kurtas, Xuefang Zhao, Eren Shin, Philip M. Boone, Hang Su, Arthur S. Lee, Rachita Yadav, Kirsten Allan, Emanuela Argilli, , Michael E. Talkowski
This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.
medRxiv · Jun 24, 2026 · PreprintGenetic & Genomic Medicine