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Article

Inferring mechanisms of copy number change from haplotype structures at the human DEFA1A3 locus.

BMC genomics - 21 Jul 2014

Black Holly A, Khan Fayeza F, Tyson Jess, Al Armour John

Abstract excerpt

BACKGROUND: The determination of structural haplotypes at copy number variable regions can indicate the mechanisms responsible for changes in copy number, as well as explain the relationship between gene copy number and expression. However, obtaining spatial information at regions displaying extensive copy number variation, such as the DEFA1A3 locus, is complex, because of the difficulty in the phasing and...

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PMID: 25048054
DOI: 10.1186/1471-2164-15-614
PMCID: PMC4117965

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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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