Document Detail

High-Resolution SNP Microarray Investigation of Copy Number Variations on Chromosome 18 in a Control Cohort.
MedLine Citation:
PMID:  23635498     Owner:  NLM     Status:  Publisher    
Copy number variations (CNVs) as described in the healthy population are purported to contribute significantly to genetic heterogeneity. Recent studies have described CNVs using lymphoblastoid cell lines or by application of specifically developed algorithms to interrogate previously described data. However, the full extent of CNVs remains unclear. Using high-density SNP array, we have undertaken a comprehensive investigation of chromosome 18 for CNV discovery and characterisation of distribution and association with chromosome architecture. We identified 399 CNVs, of which loss represents 98%, 58% are less than 2.5 kb in size and 71% are intergenic. Intronic deletions account for the majority of copy number changes with gene involvement. Furthermore, one-third of CNVs do not have putative breakpoints within repetitive sequences. We conclude that replicative processes, mediated either by repetitive elements or microhomology, account for the majority of CNVs in the healthy population. Genomic instability involving the formation of a non-B structure is demonstrated in one region.
N L Chia; M Bryce; P E Hickman; J M Potter; N Glasgow; G Koerbin; P Danoy; M A Brown; J Cavanaugh
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-4-26
Journal Detail:
Title:  Cytogenetic and genome research     Volume:  -     ISSN:  1424-859X     ISO Abbreviation:  Cytogenet. Genome Res.     Publication Date:  2013 Apr 
Date Detail:
Created Date:  2013-5-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101142708     Medline TA:  Cytogenet Genome Res     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2013 S. Karger AG, Basel.
ANU Medical School, Australian National University, The Canberra Hospital, Canberra, A.C.T., Australia.
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