Article

Population-scale disease-associated tandem repeat analysis reveals locus and ancestry-specific insights

2025-10-13

Abstract excerpt

Tandem repeat (TR) expansions underlie many monogenic disorders, with variable length and sequence influencing pathogenicity, disease penetrance, severity, and onset. Accurate genotype-phenotype correlation and disease prevalence estimation require molecular characterization beyond repeat length. Here we present a population-scale analysis of 66 disease-associated TR loci using long-read assemblies from 2,526 dive...

Topics

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

Identifiers and source

Literature Corpus work: b06240ba-bddd-5854-9120-ad9e4f9e4102
DOI: 10.1101/2025.10.11.25337795

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Population-scale disease-associated tandem repeat analysis reveals locus and ancestry-specific insightsDOI 10.1101/2025.10.11.25337795Read

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease lociSemantic proximity Read

Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeatsSemantic proximity Read

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

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

A deep population reference panel of tandem repeat variationSemantic proximity Read

Profiling the genome-wide landscape of tandem repeat expansionsSemantic proximity Read

A deep population reference panel of tandem repeat variation.Semantic proximity Read

Large scale in silico characterization of repeat expansion variation in human genomes.Semantic proximity Read

Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencingSemantic proximity Read

Increased frequency of repeat expansion mutations across different populations.Semantic proximity Read

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

A comprehensive tandem repeat catalog of the human genomeSemantic proximity Read