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Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.

作者信息

Díaz de Ståhl Teresita, Sandgren Johanna, Piotrowski Arkadiusz, Nord Helena, Andersson Robin, Menzel Uwe, Bogdan Adam, Thuresson Ann-Charlotte, Poplawski Andrzej, von Tell Desiree, Hansson Caisa M, Elshafie Amir I, Elghazali Gehad, Imreh Stephan, Nordenskjöld Magnus, Upadhyaya Meena, Komorowski Jan, Bruder Carl E G, Dumanski Jan P

机构信息

Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.

出版信息

Hum Mutat. 2008 Mar;29(3):398-408. doi: 10.1002/humu.20659.


DOI:10.1002/humu.20659
PMID:18058796
Abstract

To further explore the extent of structural large-scale variation in the human genome, we assessed copy number variations (CNVs) in a series of 71 healthy subjects from three ethnic groups. CNVs were analyzed using comparative genomic hybridization (CGH) to a BAC array covering the human genome, using DNA extracted from peripheral blood, thus avoiding any culture-induced rearrangements. By applying a newly developed computational algorithm based on Hidden Markov modeling, we identified 1,078 autosomal CNVs, including at least two neighboring/overlapping BACs, which represent 315 distinct regions. The average size of the sequence polymorphisms was approximately 350 kb and involved in total approximately 117 Mb or approximately 3.5% of the genome. Gains were about four times more common than deletions, and segmental duplications (SDs) were overrepresented, especially in larger deletion variants. This strengthens the notion that SDs often define hotspots of chromosomal rearrangements. Over 60% of the identified autosomal rearrangements match previously reported CNVs, recognized with various platforms. However, results from chromosome X do not agree well with the previously annotated CNVs. Furthermore, data from single BACs deviating in copy number suggest that our above estimate of total variation is conservative. This report contributes to the establishment of the common baseline for CNV, which is an important resource in human genetics.

摘要

相似文献

[1]
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.

Hum Mutat. 2008-3

[2]
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[3]
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[4]
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[5]
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[6]
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[7]
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[8]
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[9]
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[10]
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引用本文的文献

[1]
Copy Number Variants in Alzheimer's Disease.

J Alzheimers Dis. 2017

[2]
Copy number variations and stroke.

Neurol Sci. 2016-12

[3]
CNVs in Epilepsy.

Curr Genet Med Rep. 2014-6-28

[4]
Age dependence of tumor genetics in unfavorable neuroblastoma: arrayCGH profiles of 34 consecutive cases, using a Swedish 25-year neuroblastoma cohort for validation.

BMC Cancer. 2013-5-9

[5]
Copy-number variations observed in a Japanese population by BAC array CGH: summary of relatively rare CNVs.

J Biomed Biotechnol. 2012

[6]
Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion.

Proc Natl Acad Sci U S A. 2011-11-7

[7]
Novel amplifications in pediatric medulloblastoma identified by genome-wide copy number profiling.

J Neurooncol. 2011-10-7

[8]
Characteristics of highly polymorphic segmental copy-number variations observed in Japanese by BAC-array-CGH.

J Biomed Biotechnol. 2011

[9]
Integrative epigenomic and genomic analysis of malignant pheochromocytoma.

Exp Mol Med. 2010-7-31

[10]
Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression.

Eur J Hum Genet. 2010-1-6

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