| 1 | The HuaBiao project:whole-exome sequencing of 5000 Han Chinese individuals显示文摘Next-generation sequencing technologies have significantly accelerated the identification of disease-causing mutations and facilitated the emergence of personalized medicine(Genomes Project Consortium et al.,2015;Goodwin et al.,2016;Sirugo et al.,2019).In comparison with whole-genome sequencing,whole-exome sequencing(WES),which covers the coding regions of the genome,offers a cost-efficacy balance.WES provides deeper sequencing depth(>100)and allows the more accurate detection of rare variants that are tailored for clinical applications(Lek et al.,2016). | Meng Hao Weilin Pu Yi Li Shaoqing Wen Chang Sun Yanyun Ma Hongxiang Zheng Xingdong Chen Jingze Tan Guoqing Zhang Menghan Zhang Shuhua Xu Yi Wang Hui Li Jiucun Wang Li Jin | 2021 | Journal of Genetics and Genomics2021，48，11： | 2 |
| 2 | Correlation of DNA methylation patterns to the phenotypic features of Tibetan elite alpinists in extreme hypoxia显示文摘High altitude is an extreme environment that imposes hypoxic pressure on physiological processes,and natives living at high altitudes are more adaptive in certain physiological processes.So far,epigenetic modifications under extreme changes in hypoxic pressures are relatively less understood.Here,we recruit 32 Tibetan elite alpinists(TEAs),who have successfully mounted Everest(8848 m)at least five times.Blood samples and physiological phenotypes of TEAs and 32 matched non-alpinist Tibetan volunteers(non-TEAs)are collected for analysis.Genome-wide DNA methylation analysis identifies 23,202 differentially methylated CpGs(P_(adj)<0.05,|β|>0.1)between the two groups.Some differentially methylated CpGs are in hypoxia-related genes such as PPP1R13L,MAP3K7CL,SEPTI-9,and CUL2.In addition,Gene ontology enrichment analysis reveals several inflammation-related pathways.Phenotypic analysis indicates that 12 phenotypes are significantly different between the two groups.In particular,TEAs exhibit higher blood oxygen saturation levels and lower neutrophil count,platelet count,and heart rate.For DNA methylation association analysis,we find that two CpGs(cg16687447,cg06947206)upstream of PTEN were associated with platelet count.In conclusion,extreme hypoxia exposure leads to epigenetic modifications and phenotypic alterations of TEA,providing us clues for exploring the molecular mechanism underlying changes under extreme hypoxia conditions. | Zhuoma Basang Shixuan Zhang La Yang Deji Quzong Yi Li Yanyun Ma Meng Hao WeiLin Pu Xiaoyu Liu Hongjun Xie Meng Liang Jiucun Wang Qiangba Danzeng | 2021 | Journal of Genetics and Genomics2021，48，10： | 2 |
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