Abstract
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
| Original language | English |
|---|---|
| Article number | e0007958 |
| Journal | PLoS One |
| Volume | 4 |
| Issue number | 11 |
| DOIs | |
| State | Published - 2009 |
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All Science Journal Classification (ASJC) codes
- Agricultural and Biological Sciences(all)
- Biochemistry, Genetics and Molecular Biology(all)
- Medicine(all)
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Whole Genome Distribution and Ethnic Differentiation of Copy Number Variation in Caucasian and Asian Populations. / 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.
In: PLoS One, Vol. 4, No. 11, e0007958, 2009.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Whole Genome Distribution and Ethnic Differentiation of Copy Number Variation in Caucasian and Asian Populations
AU - Li, Jian
AU - Yang, Tielin
AU - Wang, Liang
AU - Yan, Han
AU - Zhang, Yinping
AU - Guo, Yan
AU - Pan, Feng
AU - Zhang, Zhixin
AU - Peng, Yumei
AU - Zhou, Qi
AU - He, Lina
AU - Zhu, Xuezhen
AU - Deng, Hongyi
AU - Levy, Shawn
AU - Papasian, Christopher J.
AU - Drees, Betty M.
AU - Hamilton, James J.
AU - Recker, Robert R.
AU - Cheng, Jing
AU - Deng, Hong Wen
PY - 2009
Y1 - 2009
N2 - 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
AB - 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
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U2 - 10.1371/journal.pone.0007958
DO - 10.1371/journal.pone.0007958
M3 - Article
VL - 4
JO - PLoS One
JF - PLoS One
SN - 1932-6203
IS - 11
M1 - e0007958
ER -