Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics

New England Journal of Medicine 2026

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Authors: Tessa J.J. de Bitter, Bart van der Sanden, Lydia Sagath, Wolfram Höps, Peer Arts, Michelle de Groot, Marjan M. Weiss, Ronny Derks, Amber den Ouden, Simone van den Heuvel, Raoul G.J. Timmermans, Timon van Leeuwen
+25 more Jordi Corominas Galbany, Jos G.A. Smits, Lot Snijders Blok, Tom Hofste, Marloes Steehouwer, Nick Zomer, Quentin Sabbagh, Erik-Jan Kamsteeg, Dorien Lugtenberg, Ermanno A. Bosgoed, Richard J. Rodenburg, Su Ming Sun, Arjen R. Mensenkamp, Marjolijn J.L. Ligtenberg, Nicole de Leeuw, Debby M.E.I. Hellebrekers, Alexander P.A. Stegmann, Aimée Paulussen, Marinus J. Blok, Wendy A.G. van Zelst-Stams, Arthur van den Wijngaard, Helger G. Yntema, Christian Gilissen, Alexander Hoischen, Lisenka E.L.M. Vissers
DOI: 10.1056/nejmc2602512
Cited by: 4
References: 4

Abstract

In 832 patients with rare genetic disease, a conclusive diagnosis was made for 160 patients (19.2%) with long-read genome sequencing and for 137 patients (16.5%) with standard-of-care testing.

Fields of Study & Subjects

Genomics and Rare Diseases Cancer Genomics and Diagnostics Genomic variations and chromosomal abnormalities

Publication details

Journal / source
New England Journal of Medicine
Publisher
Massachusetts Medical Society
Volume
395
Issue
4
Pages
405–408
Publication date
13 June 2026
Language
EN