Review

Toward the clinical application of long-read sequencing in repeat-expansion disorders

L. Benarroch J. Pešović Marzia Rossato Zhongbo Chen Morghan C. Lucas G. Cogan I. Rajan-Babu Vitus Prokosch C. Zarouchlioti Marco Carlomagno Ida Höijer Mayra Sauer Ismail Jamail S. Shibata G. Sequiera B. Kleinstiver S. Lameiras Ricardo Mouro Pinto Giuseppe Novelli D. Hensman Moss N. Dominik M. Barbier I. Le Ber G. Bassez Denis Furling Massimo Delledonne K. Usdin Sylvain Baulande Genevieve Gourdon Birgitt Schüle Dušanka Savić-Pavićević Annalisa Botta Alice E. Davidson A. Ameur V. Dion S. Tomé

Aug 2026 · Nature Genetics · Vol 58, pp. 2087 - 2103 · 0 citations · 199 references

Medicine

TL;DR

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.

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