Remond J.A. Fijneman

This study introduces tumor break load (TBL) as a measure of genomic instability across cancers, showing its association with gene expression changes and clinical outcomes.

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.

Dr. Disco identifies fusion transcripts and genomic breakpoints using non poly(A)-enriched RNA-seq data, revealing transcribed rearrangements and their expression effects in cancer samples.

TraIT provides an IT platform for translational research, supporting data management and workflows with training, and has been widely adopted as a demonstrator for Health-RI.