Author
Radboud University Medical CenterORCID 0000-0002-9066-8690Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
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.
Bart P. G. H. van der Sanden, Sandra Vorimo, Theresa Brunet…·Alexander Hoischen
This study uses optical genome mapping to identify de novo and rare inherited structural variants in 57 patient-parent trios, finding 13 de novo SVs and 11 rare inherited SVs, some of which are pathogenic or candidate disease-causing.
Bart P. G. H. van der Sanden, Kornelia Neveling, Syukri Shukor…·Alexander Hoischen
This study evaluates optical genome mapping (OGM) for detecting STR repeat expansions and somatic instability, showing high accuracy and efficiency compared to current methods.