Author
Radboud University Medical CenterORCID 0000-0001-5485-7497Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Niccoló Tesi, Alex Salazar, Yaran Zhang…·Henne H. Holstege
The paper introduces otter and TREAT for accurate tandem repeat genotyping across long-read sequencing platforms, showing improved accuracy and identifying pathogenic expansions and disease associations.
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.
Bart P. G. H. van der Sanden, Jordi Corominas, Michelle de Groot…·Christian Gilissen
This study systematically analyzes short tandem repeats in exomes to improve diagnostic yield in genetic testing.