Article

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion

2025-07-05

Abstract excerpt

<h4>ABSTRACT</h4> The most common genomic disorder, chromosome 22q11.2 microdeletion syndrome (22q11.2DS), is mediated by highly identical and polymorphic segmental duplications (SDs) known as low copy repeats (LCRs; regions A-D) that have been challenging to sequence and characterize. Here, we report the sequence-resolved genomic architecture of 135 chromosome 22q11.2 haplotypes from diverse 1000 Genomes Project...

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Literature Corpus work: b30328fd-ff5d-5152-b0a0-e7ae533019f2
DOI: 10.1101/2025.07.04.662981

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