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High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing

10 May 2023

Abstract excerpt

BACKGROUND: High sequence identity between segmental duplications (SDs) can facilitate copy number variants (CNVs) via non-allelic homologous recombination (NAHR). These CNVs are one of the fundamental causes of genomic disorders such as the 3q29 deletion syndrome (del3q29S). There are 21 protein-coding genes lost or gained as a result of such recurrent 1.6-Mbp deletions or duplications, respectively, in the 3q29...

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PMID: 37165454
DOI: 10.1186/s13073-023-01184-5

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