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

Summary Somatic 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. Availability MosaicTR is freely available at https://github.com/junsoopablo/mosaictr under the MIT license. Contact [email protected]