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Author

V. Dion

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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. · 0 citations
Open access Jul 2026

Targeted sequencing of expanded tandem repeats: Identifying interruptions and errors

CHARLIE (Comprehensive High-throughput Analysis of Repeat Length, Interruptions and Expansions) is developed to identify and position interruptions within expanded repeats.

Aeverie E. R. Heuchan, Ruban Rex Peter Durairaj, Alys N. Aston et al. · 0 citations

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