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Article

Absence of heterozygosity due to template switching during replicative rearrangements.

American journal of human genetics - 2 Apr 2015

Carvalho Claudia M B, Pfundt Rolph, King Daniel A, Lindsay Sarah J, Zuccherato Luciana W, Macville Merryn V E, Liu Pengfei, Johnson Diana, Stankiewicz Pawel, Brown Chester W, Shaw Chad A, Hurles Matthew E, Ira Grzegorz, Hastings P J, Brunner Han G, Lupski James R

Abstract excerpt

We investigated complex genomic rearrangements (CGRs) consisting of triplication copy-number variants (CNVs) that were accompanied by extended regions of copy-number-neutral absence of heterozygosity (AOH) in subjects with multiple congenital abnormalities. Molecular analyses provided observational evidence that in humans, post-zygotically generated CGRs can lead to regional uniparental disomy (UPD) due to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25799105
DOI: 10.1016/j.ajhg.2015.01.021
PMCID: PMC4385179

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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