Review
Aug 2026
Toward the clinical application of long-read sequencing in repeat-expansion disorders
This Perspective by the LRS-RED consortium discusses methodological, bioinformatic and diagnostic advances in long-read sequencing (LRS) for repeat-expansion disorders, highlighting the potential of LRS to reshape research and clinical practice.
L. Benarroch, J. Pešović, Marzia Rossato et al.
· Nature Genetics · 0 citations