Optical genome mapping enables accurate repeat expansion testing
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 Tieleman, Nicol Voermans, Ingrid E Scheffer, Jozef Gecz, Mark Corbett, Lisenka ELM Vissers, Andy WC Pang, Alex Hastie, Erik-Jan Kamsteeg, Alexander Hoischen
bioRxiv 2024.04.19.590273; doi: https://doi.org/10.1101/2024.04.19.590273 New Results