Reference-free microsatellite instability detection from tumor sequencing using intrasample variability modeling
Georgios Vlachos, Tina Moser, Mitesh Patel, James Robert White, Carina Pischler, Lisa Glawitsch, Thomas Bauernhofer, Philipp Jost, Leo Edlinger, Karl Kashofer, J.B. Geigl, Luis Alberto Diaz, Ellen Heitzer
PROMIS detects microsatellite instability in tumor sequencing without reference data or matched normals, achieving high accuracy across multiple cancer types and sample types.
Computational and Structural Biotechnology Journal · Mar 1, 2026Peer-reviewedBioinformatics