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

Fayeza Khan, Holly Black, Jess Tyson, John Armour

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

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 assembly of these regions. The DEFA1A3 locus is intriguing in that it falls within a region of high linkage disequilibrium, despite its high variability in copy number (n = 3–16); hence, the mechanisms responsible for changes in copy number at this locus are unclear.
Original languageEnglish
Article number614
Number of pages11
JournalBMC Genomics
Volume15
DOIs
Publication statusPublished - 2014
Externally publishedYes

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