Ewart de Bruijn

The paper compiles a comprehensive reference dataset of true somatic structural variations by analyzing melanoma and normal cell lines with multiple sequencing technologies and experimental validation.

This study validates whole genome sequencing as a reliable single assay for detecting various cancer mutations with high sensitivity and precision.

This study compares the costs of various diagnostic techniques, including whole genome sequencing, for treating specific cancers in the Netherlands.

This study uses nanopore sequencing to detect and phase structural variants in patient genomes, identifying novel variants missed by short-read sequencing.