M. Riemenschneider

Intraoperative copy number profiling from ultra-low coverage long-read sequencing for molecular tumor assessment

CNVisor is introduced, a statistical framework for reliable and robust CNV detection from long-read sequencing, even under ultra-low coverage, and established real-time CNV profiling using ultra-low coverage nanopore sequencing as a feasible strategy for intraoperative, genomics-informed assessment of CNS tumors.