Article

STRmie-HD enables interruption-aware HTT repeat genotyping and somatic mosaicism profiling across sequencing platforms

2026-03-25

Abstract excerpt

Short tandem repeat expansions in exon 1 of the HTT gene drive Huntington’s disease (HD) pathogenesis, with disease onset and progression heavily influenced by somatic mosaicism and sequence interruptions. While sequencing technologies enable repeat sizing, many computational tools lack the resolution to capture subtle interruption motifs and allele-specific somatic variation. We present STRmie-HD, an alignment-f...

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Literature Corpus work: fe780c90-410e-5af7-bc67-ced32f1d16a0
DOI: 10.64898/2026.03.21.713334

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