Integrative optical genome mapping and long-read sequencing resolve constitutional complex rearrangements at nucleotide resolution
Bruna Burssed, Bart P. G. H. van der Sanden, Wolfram Höps, Kornelia Neveling, Eveline J. Kamping, Ronald van Beek, Amber den Ouden, Ronny C. Derks, Raoul Timmermans, Eduardo Perrone, Marco Antonio Ramos, Fernanda Teixeira da Silva Bellucco, Wolfram Hoeps, Maria Isabel Melaragno
The paper uses optical genome mapping and long-read sequencing to resolve complex rearrangements at nucleotide resolution, revealing additional complexity and enabling accurate genotype-phenotype correlations.
bioRxiv · Aug 28, 2026 · PreprintGenomics