Jochen Bernd Geigl

Reference-free microsatellite instability detection from tumor sequencing using intrasample variability modeling

ABSTRACT Microsatellite instability (MSI) is a key predictive biomarker across multiple tumor types, but current next-generation sequencing (NGS)-based callers oftendependon matched normals, large reference panels, or pretrained machine-learning models, which limits portability a...