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bioRxiv · 10.64898/2026.03.16.712141

MosaicTR: tandem repeat somatic instability quantification from long-read sequencing

Kim, J.
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Abstract

SummarySomatic instability of tandem repeats modifies disease onset and progression in repeat expansion disorders and serves as a biomarker for mismatch repair deficiency in cancer. MosaicTR quantifies per-locus somatic instability from haplotype-tagged long-read sequencing data without the read-length and PCR stutter limitations of short-read approaches. A motif-unit-weighted metric reduces platform-specific sequencing noise on both PacBio HiFi and Oxford Nanopore data, and pairwise comparison modes support detection of tissue-specific or longitudinal instability changes. AvailabilityMosaicTR is freely available at https://github.com/junsoopablo/mosaictr under the MIT license. Contactjunsoopablo@snu.ac.kr

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Kim, J.. 2026-03-18. MosaicTR: tandem repeat somatic instability quantification from long-read sequencing. https://doi.org/10.64898/2026.03.16.712141

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