Article

A computational model for quantifying instability of tandem repeats across the genome

2026-04-10

Abstract excerpt

Tandem repeats (TRs) exhibit high levels of somatic mosaicism, which is increasingly recognized as an important modifier of repeat expansion disorders. Long-read sequencing can capture full-length repeat alleles, yet robust frameworks for quantifying instability across TRs genome-wide are still needed. Here, we introduce a general-purpose model for quantifying TR instability in a given long-read sequencing dataset...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 65c863e7-40eb-5868-9b92-651a9fd812f0
DOI: 10.64898/2026.04.08.717199

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A computational model for quantifying instability of tandem repeats across the genomeDOI 10.64898/2026.04.08.717199Read

Resolving the unsolved: Comprehensive assessment of tandem repeats at scaleSemantic proximity Read

Genome-wide detection of somatic mosaicism at short tandem repeatsSemantic proximity Read

A comprehensive tandem repeat catalog of the human genomeSemantic proximity Read

Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases.Semantic proximity Read

Genome-wide detection of somatic mosaicism at short tandem repeats.Semantic proximity Read

Defining a tandem repeat catalog and variation clusters for genome-wide analysesSemantic proximity Read

A family portrait of the genomic factors shaping tandem repeat mutagenesisSemantic proximity Read

Hunting for microsatellite instability in long-read data with OwlSemantic proximity Read

A population-scale map of human tandem repeat composition and mutation dynamics from long-read assembliesSemantic proximity Read

TRGT-denovo: accurate detection of <i>de novo</i> tandem repeat mutationsSemantic proximity Read

Population-scale variability at short tandem repeat loci reveals pathogenicity signatureSemantic proximity Read

Accurate detection of mosaic mutations at short tandem repeats from bulk sequencing dataSemantic proximity Read