Low Pass Genomes of 141,431 Chinese Reveal Patterns of Viral Infection, Novel Phenotypic Associations, and the Genetic History of China

作者: Siyang Liu , Shujia Huang , Fang Chen , Lijian Zhao , Yuying Yuan

DOI: 10.2139/SSRN.3188420

关键词:

摘要: We analyze whole-genome sequencing data from 141,431 Chinese women generated for non-invasive pregnancy testing (NIPT). use these to characterize the population genetic structure of China, and investigate associations with maternal infectious traits. discover that present day distribution alleles is a function both ancient migration recent movements. reveal novel phenotype-genotype associations, including several replicated height BMI, an association between age variant near EMB, twin NRG1. Finally, we identify unique pattern circulating viral DNA in plasma high prevalence hepatitis B other clinically relevant infections. A GWAS infections identifies exceptionally strong integrated herpesvirus 6 MOV10L1, which affects piRNA processing PIWI protein function. These findings demonstrate great value potential accumulating NIPT worldwide medical analyses.

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