BioinformaticsComputational and Structural Biotechnology JournalPeer-reviewed
Reference-free microsatellite instability detection from tumor sequencing using intrasample variability modeling
Georgios Vlachos, Tina Moser, Mitesh Patel…·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.
DOI 10.34133/csbj.0219