Article

Accurate detection of mosaic mutations at short tandem repeats from bulk sequencing data

2026-04-01

Abstract excerpt

Short tandem repeats (STRs) are among the most mutable regions of the human genome, yet their somatic mosaicism remains poorly characterized due to the technical challenges of distinguishing genuine mutations from high intrinsic polymorphism and sequencing noise. Here, we introduce BulkMonSTR, a computational framework that combines STR-specific error modelling with machine-learning classification to enable accura...

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Literature Corpus work: df1c0b62-da5d-53eb-810d-35ed8a75344b
DOI: 10.64898/2026.03.30.715227

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