Karl Kashofer

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...

Idylla™ POLE-POLD1 mutation assay for molecular characterization and risk stratification of endometrial cancers: a retrospective multicenter validation study

Endometrial carcinoma (EC) is a common gynecological cancer with rising incidence driven by obesity and aging populations. Accurate and timely molecular classification is critical for guiding personalized oncology treatment, especially in early-stage high-grade endometrioid carci...