Carolin M. Sauer

SAVANA improves detection of somatic structural variants and copy number aberrations in cancer using long-read sequencing with higher sensitivity and specificity than existing tools.

This study identifies chromothripsis and a novel LTA chromothripsis mechanism driving genome complexity and evolution in osteosarcoma, with prognostic implications for high-grade tumors.

The paper generates and characterizes three new HGSOC cell lines that retain genomic and pathologic features of their parental tumors, providing models for studying chemoresistance.

The paper evaluates tools for estimating absolute copy numbers from shallow whole genome sequencing data and introduces an improved tool called Rascal.