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Article

Widespread distribution of Alu/Alu-mediated genomic rearrangement predisposing to a broad range of Mendelian disease and cancer in human populations.

Genome medicine - 1 Apr 2026

Duan Ruizhi Vince, Du Haowei, Pande Shruti, Saad Ahmed K, Atik Meryem M, Jamsandekar Minal, Coveler Karen J, Dardas Zain, Jhangiani Shalini N, Posey Jennifer E, Gibbs Richard A, Lupski James R

Abstract excerpt

BACKGROUND: Genome-wide distributions of Alu elements contribute to a broad range of structural variants (SVs) through Alu/Alu-mediated genomic rearrangement (AAMR). Yet, the prevalence and characteristics of AAMR on the human genome and its scale in generating pathogenic SVs remain poorly understood. METHODS: We established a disease-focused, AAMR-SV dataset and a control dataset to comprehensively delineate the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41923117
DOI: 10.1186/s13073-026-01602-4
PMCID: PMC13041450

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