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Whole Genome Distribution and Ethnic Differentiation of Copy Number Variation in Caucasian and Asian Populations (Copy Number Variation)

Although copy number variation (CNV) has recently received much attention as a form of structure variation within the human genome, knowledge is still inadequate on fundamental CNV characteristics such as occurrence rate, genomic distribution and ethnic differentiation. In the present study, we used... Full description

Journal Title: PLoS ONE 2009, Vol.4(11), p.e7958
Main Author: Li, Jian
Other Authors: Yang, Tielin , Wang, Liang , Yan, Han , Zhang, Yinping , Guo, Yan , Pan, Feng , Zhang, Zhixin , Peng, Yumei , Zhou, Qi , He, Lina , Zhu, Xuezhen , Deng, Hongyi , Levy, Shawn , Papasian, Christopher J , Drees, Betty M , Hamilton, James J , Recker, Robert R , Cheng, Jing , Deng, Hong-Wen
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: E-ISSN: 1932-6203 ; DOI: 10.1371/journal.pone.0007958
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recordid: plos10.1371/journal.pone.0007958
title: Whole Genome Distribution and Ethnic Differentiation of Copy Number Variation in Caucasian and Asian Populations (Copy Number Variation)
format: Article
creator:
  • Li, Jian
  • Yang, Tielin
  • Wang, Liang
  • Yan, Han
  • Zhang, Yinping
  • Guo, Yan
  • Pan, Feng
  • Zhang, Zhixin
  • Peng, Yumei
  • Zhou, Qi
  • He, Lina
  • Zhu, Xuezhen
  • Deng, Hongyi
  • Levy, Shawn
  • Papasian, Christopher J
  • Drees, Betty M
  • Hamilton, James J
  • Recker, Robert R
  • Cheng, Jing
  • Deng, Hong-Wen
subjects:
  • Research Article
  • Genetics And Genomics -- Genetics Of Disease
  • Genetics And Genomics -- Genomics
  • Genetics And Genomics -- Population Genetics
ispartof: PLoS ONE, 2009, Vol.4(11), p.e7958
description: Although copy number variation (CNV) has recently received much attention as a form of structure variation within the human genome, knowledge is still inadequate on fundamental CNV characteristics such as occurrence rate, genomic distribution and ethnic differentiation. In the present study, we used the Affymetrix GeneChip® Mapping 500K Array to discover and characterize CNVs in the human genome and to study ethnic differences of CNVs between Caucasians and Asians. Three thousand and nineteen CNVs, including 2381 CNVs in autosomes and 638 CNVs in X chromosome, from 985 Caucasian and 692 Asian individuals were identified, with a mean length of 296 kb. Among these CNVs, 190 had frequencies greater than 1% in at least one ethnic group, and 109 showed significant ethnic differences in frequencies ( p
language: eng
source:
identifier: E-ISSN: 1932-6203 ; DOI: 10.1371/journal.pone.0007958
fulltext: fulltext
issn:
  • 1932-6203
  • 19326203
url: Link


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titleWhole Genome Distribution and Ethnic Differentiation of Copy Number Variation in Caucasian and Asian Populations (Copy Number Variation)
creatorLi, Jian ; Yang, Tielin ; Wang, Liang ; Yan, Han ; Zhang, Yinping ; Guo, Yan ; Pan, Feng ; Zhang, Zhixin ; Peng, Yumei ; Zhou, Qi ; He, Lina ; Zhu, Xuezhen ; Deng, Hongyi ; Levy, Shawn ; Papasian, Christopher J ; Drees, Betty M ; Hamilton, James J ; Recker, Robert R ; Cheng, Jing ; Deng, Hong-Wen
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identifierE-ISSN: 1932-6203 ; DOI: 10.1371/journal.pone.0007958
subjectResearch Article ; Genetics And Genomics -- Genetics Of Disease ; Genetics And Genomics -- Genomics ; Genetics And Genomics -- Population Genetics
descriptionAlthough copy number variation (CNV) has recently received much attention as a form of structure variation within the human genome, knowledge is still inadequate on fundamental CNV characteristics such as occurrence rate, genomic distribution and ethnic differentiation. In the present study, we used the Affymetrix GeneChip® Mapping 500K Array to discover and characterize CNVs in the human genome and to study ethnic differences of CNVs between Caucasians and Asians. Three thousand and nineteen CNVs, including 2381 CNVs in autosomes and 638 CNVs in X chromosome, from 985 Caucasian and 692 Asian individuals were identified, with a mean length of 296 kb. Among these CNVs, 190 had frequencies greater than 1% in at least one ethnic group, and 109 showed significant ethnic differences in frequencies ( p <0.01). After merging overlapping CNVs, 1135 copy number variation regions (CNVRs), covering approximately 439 Mb (14.3%) of the human genome, were obtained. Our findings of ethnic differentiation of CNVs, along with the newly constructed CNV genomic map, extend our knowledge on the structural variation in the human genome and may furnish a basis for understanding the genomic differentiation of complex traits across ethnic groups.
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descriptionAlthough copy number variation (CNV) has recently received much attention as a form of structure variation within the human genome, knowledge is still inadequate on fundamental CNV characteristics such as occurrence rate, genomic distribution and ethnic differentiation. In the present study, we used the Affymetrix GeneChip® Mapping 500K Array to discover and characterize CNVs in the human genome and to study ethnic differences of CNVs between Caucasians and Asians. Three thousand and nineteen CNVs, including 2381 CNVs in autosomes and 638 CNVs in X chromosome, from 985 Caucasian and 692 Asian individuals were identified, with a mean length of 296 kb. Among these CNVs, 190 had frequencies greater than 1% in at least one ethnic group, and 109 showed significant ethnic differences in frequencies ( p <0.01). After merging overlapping CNVs, 1135 copy number variation regions (CNVRs), covering approximately 439 Mb (14.3%) of the human genome, were obtained. Our findings of ethnic differentiation of CNVs, along with the newly constructed CNV genomic map, extend our knowledge on the structural variation in the human genome and may furnish a basis for understanding the genomic differentiation of complex traits across ethnic groups.
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abstractAlthough copy number variation (CNV) has recently received much attention as a form of structure variation within the human genome, knowledge is still inadequate on fundamental CNV characteristics such as occurrence rate, genomic distribution and ethnic differentiation. In the present study, we used the Affymetrix GeneChip® Mapping 500K Array to discover and characterize CNVs in the human genome and to study ethnic differences of CNVs between Caucasians and Asians. Three thousand and nineteen CNVs, including 2381 CNVs in autosomes and 638 CNVs in X chromosome, from 985 Caucasian and 692 Asian individuals were identified, with a mean length of 296 kb. Among these CNVs, 190 had frequencies greater than 1% in at least one ethnic group, and 109 showed significant ethnic differences in frequencies ( p <0.01). After merging overlapping CNVs, 1135 copy number variation regions (CNVRs), covering approximately 439 Mb (14.3%) of the human genome, were obtained. Our findings of ethnic differentiation of CNVs, along with the newly constructed CNV genomic map, extend our knowledge on the structural variation in the human genome and may furnish a basis for understanding the genomic differentiation of complex traits across ethnic groups.
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date2009-11-23