Article

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

2026-01-14

Abstract excerpt

<h4>ABSTRACT</h4> 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 across assays and sequencing centers. We developed PROMIS (PROfiling of Microsatellite InStability), a tumor-only, reference-fre...

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Literature Corpus work: 4a21036f-9f31-5dcf-a79f-5169d3511b5d
DOI: 10.64898/2026.01.13.699258

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