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Article

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

Nature communications - 6 Aug 2026

Rajan-Babu Indhu-Shree, Chiu Readman, Weisburd Ben, Caglayan Iris, Birol Inanc, Friedman Jan M

Abstract excerpt

Tandem repeat (TR) expansions, including short TRs (motifs ≤6 bp) and variable number TRs (motifs >6 bp), underlie many monogenic disorders, with variable length and sequence influencing pathogenicity, penetrance, severity, and onset. Accurate genotype-phenotype correlation and disease prevalence estimation require characterization beyond repeat length. Here we present a population-scale analysis of 66...

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Topics

Humans
Linkage Disequilibrium
Phylogeny
Tandem Repeat Sequences
Haplotypes
Genetic Predisposition to Disease

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Genetic Loci

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Identifiers

PMID: 42686677
DOI: 10.1038/s41467-026-75404-y
PMCID: PMC13538368

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