Article

Synergistic role of <i>Alu</i> and core duplicon sequences in driving genomic instability at the disease-associated 16p12.3–p13.11 region

2025-07-12

Abstract excerpt

<h4>ABSTRACT</h4> Human chromosome 16p is a hotspot of interspersed segmental duplications (SDs), which have served as row material for gene innovation while also increasing susceptibility to recurrent pathogenic rearrangements. These SDs are organized around a high-copy, ancestral core duplicon known as LCR16a (Low Copy Repeat 16a), and are characterized by an enrichment of Alu elements at their boundaries. In...

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Literature Corpus work: 615cc3f5-b5a0-5c11-8fb2-96ae7457f932
DOI: 10.1101/2025.07.09.663898

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Synergistic role of <i>Alu</i> and core duplicon sequences in driving genomic instability at the disease-associated 16p12.3–p13.11 regionDOI 10.1101/2025.07.09.663898Read

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