Abstract
| Original language | English |
|---|---|
| Article number | 614 |
| Number of pages | 11 |
| Journal | BMC Genomics |
| Volume | 15 |
| DOIs | |
| Publication status | Published - 2014 |
| Externally published | Yes |
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Inferring mechanisms of copy number change from haplotype structures at the human DEFA1A3 locus. / Khan, Fayeza; Black, Holly; Tyson, Jess; Armour, John.
In: BMC Genomics, Vol. 15, 614, 2014.Research output: Contribution to journal › Article
TY - JOUR
T1 - Inferring mechanisms of copy number change from haplotype structures at the human DEFA1A3 locus
AU - Khan, Fayeza
AU - Black, Holly
AU - Tyson, Jess
AU - Armour, John
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
U2 - 10.1186/1471-2164-15-614
DO - 10.1186/1471-2164-15-614
M3 - Article
VL - 15
JO - BMC Genomics
JF - BMC Genomics
SN - 1471-2164
M1 - 614
ER -