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Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History

文献类型：期刊论文

作者Liu, Siyang1,2; Huang, Shujia1,3; Chen, Fang1,24,25; Zhao, Lijian1; Yuan, Yuying1; Francis, Stephen Starko4,5; Fang, Lin1; Li, Zilong6; Lin, Long6; Liu, Rong1
刊名CELL
出版日期2018-10-04
卷号175期号:2页码:347-+
ISSN号0092-8674
DOI10.1016/j.cell.2018.08.016
通讯作者Wang, Jian(wangjian@genomics.cn) ; Albrechtsen, Anders(albrecht@binf.ku.dk) ; Jin, Xin(jinxin@genomics.cn) ; Nielsen, Rasmus(rasmus_nielsen@berkeley.edu) ; Xu, Xun(xuxun@genomics.cn)
英文摘要We analyze whole-genome sequencing data from 141,431 Chinese women generated for non-invasive prenatal testing (NIPT). We use these data to characterize the population genetic structure and to investigate genetic associations with maternal and infectious traits. We show that the present day distribution of alleles is a function of both ancient migration and very recent population movements. We reveal novel phenotype-genotype associations, including several replicated associations with height and BMI, an association between maternal age and EMB, and between twin pregnancy and NRG1. Finally, we identify a unique pattern of circulating viral DNA in plasma with high prevalence of hepatitis B and other clinically relevant maternal infections. A GWAS for viral infections identifies an exceptionally strong association between integrated herpesvirus 6 and MOV10L1, which affects piwi-interacting RNA (piRNA) processing and PIWI protein function. These findings demonstrate the great value and potential of accumulating NIPT data for worldwide medical and genetic analyses.
WOS关键词GENERATION SEQUENCING DATA ; EXPRESSION GTEX PROJECT ; WIDE ASSOCIATION ; GENOTYPE IMPUTATION ; POSITIVE SELECTION ; GWAS CATALOG ; HAN CHINESE ; EAST-ASIA ; DISEASE ; DISCOVERY
资助项目Natural Science Foundation of Guangdong Province, China[2017A030306026] ; Funds for Distinguished Young Scholar of South China University of China[2017JQ017] ; Funds for Industrial PhD by Innovation Fund Denmark[4135-00130B]
WOS研究方向Biochemistry & Molecular Biology ; Cell Biology
语种英语
WOS记录号WOS:000446321300009
出版者CELL PRESS
资助机构Natural Science Foundation of Guangdong Province, China ; Funds for Distinguished Young Scholar of South China University of China ; Funds for Industrial PhD by Innovation Fund Denmark
源URL[http://119.78.100.205/handle/311034/8995]  
专题中国科学院古脊椎动物与古人类研究所
通讯作者Wang, Jian; Albrechtsen, Anders; Jin, Xin; Nielsen, Rasmus; Xu, Xun
作者单位1.BGI Shenzhen, Shenzhen 518083, Guangdong, Peoples R China
2.Univ Copenhagen, Dept Biol, Bioinformat Ctr, DK-2200 Copenhagen, Denmark
3.South China Univ Technol, Sch Med, Guangzhou 510006, Guangdong, Peoples R China
4.Univ Nevada, Div Epidemiol, Reno, NV 89557 USA
5.Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA
6.Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Guangdong, Peoples R China
7.Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON M6H 3W4, Canada
8.Univ Oxford, Nuffield Dept Populat Hlth, Clin Trial Serv Unit, Oxford OX3 7LF, England
9.Univ Oxford, Nuffield Dept Populat Hlth, Epidemiol Studies Unit, Oxford OX3 7LF, England
10.Univ Cambridge, Dept Zool, Downing St, Cambridge CB2 3EJ, England
推荐引用方式
GB/T 7714		 Liu, Siyang,Huang, Shujia,Chen, Fang,et al. Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History[J]. CELL,2018,175(2):347-+.
APA Liu, Siyang.,Huang, Shujia.,Chen, Fang.,Zhao, Lijian.,Yuan, Yuying.,...&Xu, Xun.(2018).Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History.CELL,175(2),347-+.
MLA Liu, Siyang,et al."Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History".CELL 175.2(2018):347-+.

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来源：古脊椎动物与古人类研究所

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