GenomicsbioRxivPreprint
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…·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.
DOI 10.64898/2026.08.27.747510