Large autosomal copy-number differences within unselected monozygotic twin pairs are rare

Mcrae, Allan F., Visscher, Peter M., Montgomery, Grant W. and Martin, Nicholas G. (2015) Large autosomal copy-number differences within unselected monozygotic twin pairs are rare. Twin Research and Human Genetics, 18 1: 13-18. doi:10.1017/thg.2014.85

Attached Files (Some files may be inaccessible until you login with your UQ eSpace credentials)
Name Description MIMEType Size Downloads
UQ352484_OA.pdf Full text (open access) application/pdf 163.40KB 0

Author Mcrae, Allan F.
Visscher, Peter M.
Montgomery, Grant W.
Martin, Nicholas G.
Title Large autosomal copy-number differences within unselected monozygotic twin pairs are rare
Journal name Twin Research and Human Genetics   Check publisher's open access policy
ISSN 1839-2628
Publication date 2015-02-01
Year available 2015
Sub-type Article (original research)
DOI 10.1017/thg.2014.85
Open Access Status Not yet assessed
Volume 18
Issue 1
Start page 13
End page 18
Total pages 6
Place of publication Cambridge, United Kingdom
Publisher Cambridge University Press
Language eng
Subject 2716 Genetics (clinical)
2729 Obstetrics and Gynaecology
2735 Pediatrics, Perinatology, and Child Health
Abstract Monozygotic (MZ) twins form an important system for the study of biological plasticity in humans. While MZ twins are generally considered to be genetically identical, a number of studies have emerged that have demonstrated copy-number differences within a twin pair, particularly in those discordant for disease. The rate of autosomal copy-number variation (CNV) discordance within MZ twin pairs was investigated using a population sample of 376 twin pairs genotyped on Illumina Human610-Quad arrays. After CNV calling using both QuantiSNP and PennCNV followed by manual annotation, only a single CNV difference was observed within the MZ twin pairs, being a 130 KB duplication of chromosome 5. Five other potential discordant CNV were called by the software, but excluded based on manual annotation of the regions. It is concluded that large CNV discordance is rare within MZ twin pairs, indicating that any CNV difference found within phenotypically discordant MZ twin pairs has a high probability of containing the causal gene(s) involved.
Keyword CNV
de novo
monozygotic twins
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Queensland Brain Institute Publications
Official 2016 Collection
UQ Diamantina Institute Publications
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 6 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 7 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Tue, 03 Mar 2015, 10:40:30 EST by System User on behalf of Scholarly Communication and Digitisation Service