Roel Janssen

SHARC rapidly identifies somatic genomic structural variations from nanopore sequencing for blood-based cancer monitoring, detecting ten SVs per sample and enabling treatment response tracking in metastatic prostate cancer.

GRIDSS2 identifies somatic structural variants by analyzing single breakends and phasing, achieving a 3.1% false negative rate in metastatic cancers and uncovering a novel duplication signature.

This study quantifies and characterizes mutation accumulation in human induced pluripotent stem cells and adult stem cells during in vitro culture, revealing distinct mutational signatures and higher mutation rates compared to in vivo.

This study prioritizes driver genes in patients with de novo genomic structural variants using integrative analysis of WGS data, phenotype information, and chromatin organization datasets.

The paper shows that NER deficiency increases Signature 8 mutations in specific tissues and suggests this could be a biomarker for NER-deficiency in cancer.

MutationalPatterns analyzes mutational processes genome-wide to quantify mutational signatures and their relation to genomic features.