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Research

Optical genome mapping enables accurate testing of large repeat expansions

Bart van der Sanden
Kornelia Neveling
Syukri Shukor
Michael D. Gallagher
Joyce Lee
Stephanie L. Burke Maartje Pennings Ronald van Beek Michiel Oorsprong Ellen Kater-Baats Eveline Kamping Alide A. Tieleman Nicol C. Voermans Ingrid E. Scheffer Jozef Gecz Mark A. Corbett Lisenka E.L.M. Vissers
... [+12 authors] ...,
Andy Wing Chun Pang
Alex Hastie
Erik-Jan Kamsteeg
Alexander Hoischen

First Published March 20, 2025

Method

otter" > Characterizing tandem repeat complexities across long-read sequencing platforms with TREAT and otter

Niccoló Tesi
Alex Salazar
Yaran Zhang
Sven van der Lee
Marc Hulsman
Lydian Knoop Sanduni Wijesekera Jana Krizova Anne-Fleur Schneider Maartje Pennings
... [+5 authors] ...,
Kristel Sleegers
Erik-Jan Kamsteeg
Marcel Reinders
Henne Holstege

First Published October 15, 2024