Assessing genome-wide copy number variation in the Han Chinese population
文献类型：期刊论文
| 作者 | Lu, Jianqi1; Zhang, Feng1; Li, Changhua1; Fang, Baijun1; Pu, Fangfang1; Wei, Jingning1; Wei, Qian1; Yan, Shi1; Yang, Yajun1; Jin, Li1,4 |
| 刊名 | JOURNAL OF MEDICAL GENETICS
 |
| 出版日期 | 2017 |
| 卷号 | 54期号:10页码:685-692 |
| ISSN号 | 0022-2593 |
| DOI | 10.1136/jmedgenet-2017-104613 |
| 文献子类 | Article |
| 英文摘要 | Background Copy number variation (CNV) is a valuable source of genetic diversity in the human genome and a well-recognised cause of various genetic diseases. However, CNVs have been considerably under-represented in population-based studies, particularly the Han Chinese which is the largest ethnic group in the world. Objectives To build a representative CNV map for the Han Chinese population. Methods We conducted a genome-wide CNV study involving 451 male Han Chinese samples from 11 geographical regions encompassing 28 dialect groups, representing a less-biased panel compared with the currently available data. We detected CNVs by using 4.2M NimbleGen comparative genomic hybridisation array and whole-genome deep sequencing of 51 samples to optimise the filtering conditions in CNV discovery. Results A comprehensive Han Chinese CNV map was built based on a set of high-quality variants (positive predictive value >0.8, with sizes ranging from 369 bp to 4.16 Mb and a median of 5907 bp). The map consists of 4012 CNV regions (CNVRs), and more than half are novel to the 30 East Asian CNV Project and the 1000 Genomes Project Phase 3. We further identified 81 CNVRs specific to regional groups, which was indicative of the subpopulation structure within the Han Chinese population. Conclusions Our data are complementary to public data sources, and the CNV map may facilitate in the identification of pathogenic CNVs and further biomedical research studies involving the Han Chinese population. |
| 学科主题 | Genetics & Heredity |
| WOS关键词 | STRUCTURAL VARIATION ; ARRAY CGH ; VARIANTS ; SEGMENTATION ; ASSOCIATION ; MUTATIONS ; SEQUENCE ; MAP |
| 语种 | 英语 |
| 出版者 | BMJ PUBLISHING GROUP |
| WOS记录号 | WOS:000410928700006 |
| 版本 | 出版稿 |
| 源URL | [http://202.127.25.144/handle/331004/890]  |
| 专题 | 中国科学院上海生命科学研究院营养科学研究所 |
| 作者单位 | 1.Fudan Univ, Sch Life Sci, State Key Lab Genet Engn, Shanghai, Peoples R China; 2.CAS MPG Partner Inst Computat Biol, Max Planck Independent Res Grp Populat Genom, Shanghai, Peoples R China; 3.ShanghaiTech Univ, Sch Life Sci & Technol, Shanghai, Peoples R China, 4.Fudan Univ, Collaborat Innovat Ctr Genet & Dev, Shanghai, Peoples R China; 5.Univ Chinese Acad Sci, Beijing, Peoples R China; |
| 推荐引用方式 GB/T 7714 | Lu, Jianqi,Zhang, Feng,Li, Changhua,et al. Assessing genome-wide copy number variation in the Han Chinese population[J]. JOURNAL OF MEDICAL GENETICS,2017,54(10):685-692. |
| APA | Lu, Jianqi.,Zhang, Feng.,Li, Changhua.,Fang, Baijun.,Pu, Fangfang.,...&,.(2017).Assessing genome-wide copy number variation in the Han Chinese population.JOURNAL OF MEDICAL GENETICS,54(10),685-692. |
| MLA | Lu, Jianqi,et al."Assessing genome-wide copy number variation in the Han Chinese population".JOURNAL OF MEDICAL GENETICS 54.10(2017):685-692. |
入库方式： OAI收割
来源：上海营养与健康研究所
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