<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Yi, Xin</style></author><author><style face="normal" font="default" size="100%">Liang, Yu</style></author><author><style face="normal" font="default" size="100%">Huerta-Sánchez, Emilia</style></author><author><style face="normal" font="default" size="100%">Jin, Xin</style></author><author><style face="normal" font="default" size="100%">Cuo, Zha Xi Ping</style></author><author><style face="normal" font="default" size="100%">Pool, John E</style></author><author><style face="normal" font="default" size="100%">Xu, Xun</style></author><author><style face="normal" font="default" size="100%">Jiang, Hui</style></author><author><style face="normal" font="default" size="100%">Vinckenbosch, Nicolas</style></author><author><style face="normal" font="default" size="100%">Korneliussen, Thorfinn Sand</style></author><author><style face="normal" font="default" size="100%">Zheng, Hancheng</style></author><author><style face="normal" font="default" size="100%">Liu, Tao</style></author><author><style face="normal" font="default" size="100%">He, Weiming</style></author><author><style face="normal" font="default" size="100%">Li, Kui</style></author><author><style face="normal" font="default" size="100%">Luo, Ruibang</style></author><author><style face="normal" font="default" size="100%">Nie, Xifang</style></author><author><style face="normal" font="default" size="100%">Wu, Honglong</style></author><author><style face="normal" font="default" size="100%">Zhao, Meiru</style></author><author><style face="normal" font="default" size="100%">Cao, Hongzhi</style></author><author><style face="normal" font="default" size="100%">Zou, Jing</style></author><author><style face="normal" font="default" size="100%">Shan, Ying</style></author><author><style face="normal" font="default" size="100%">Li, Shuzheng</style></author><author><style face="normal" font="default" size="100%">Yang, Qi</style></author><author><style face="normal" font="default" size="100%">Ni, Peixiang</style></author><author><style face="normal" font="default" size="100%">Tian, Geng</style></author><author><style face="normal" font="default" size="100%">Xu, Junming</style></author><author><style face="normal" font="default" size="100%">Liu, Xiao</style></author><author><style face="normal" font="default" size="100%">Jiang, Tao</style></author><author><style face="normal" font="default" size="100%">Wu, Renhua</style></author><author><style face="normal" font="default" size="100%">Zhou, Guangyu</style></author><author><style face="normal" font="default" size="100%">Tang, Meifang</style></author><author><style face="normal" font="default" size="100%">Qin, Junjie</style></author><author><style face="normal" font="default" size="100%">Wang, Tong</style></author><author><style face="normal" font="default" size="100%">Feng, Shuijian</style></author><author><style face="normal" font="default" size="100%">Li, Guohong</style></author><author><style face="normal" font="default" size="100%">Luosang, Jiangbai</style></author><author><style face="normal" font="default" size="100%">Wang, Wei</style></author><author><style face="normal" font="default" size="100%">Chen, Fang</style></author><author><style face="normal" font="default" size="100%">Wang, Yading</style></author><author><style face="normal" font="default" size="100%">Zheng, Xiaoguang</style></author><author><style face="normal" font="default" size="100%">Li, Zhuo</style></author><author><style face="normal" font="default" size="100%">Bianba, Zhuoma</style></author><author><style face="normal" font="default" size="100%">Yang, Ge</style></author><author><style face="normal" font="default" size="100%">Wang, Xinping</style></author><author><style face="normal" font="default" size="100%">Tang, Shuhui</style></author><author><style face="normal" font="default" size="100%">Gao, Guoyi</style></author><author><style face="normal" font="default" size="100%">Chen, Yong</style></author><author><style face="normal" font="default" size="100%">Luo, Zhen</style></author><author><style face="normal" font="default" size="100%">Gusang, Lamu</style></author><author><style face="normal" font="default" size="100%">Cao, Zheng</style></author><author><style face="normal" font="default" size="100%">Zhang, Qinghui</style></author><author><style face="normal" font="default" size="100%">Ouyang, Weihan</style></author><author><style face="normal" font="default" size="100%">Ren, Xiaoli</style></author><author><style face="normal" font="default" size="100%">Liang, Huiqing</style></author><author><style face="normal" font="default" size="100%">Zheng, Huisong</style></author><author><style face="normal" font="default" size="100%">Huang, Yebo</style></author><author><style face="normal" font="default" size="100%">Li, Jingxiang</style></author><author><style face="normal" font="default" size="100%">Bolund, Lars</style></author><author><style face="normal" font="default" size="100%">Kristiansen, Karsten</style></author><author><style face="normal" font="default" size="100%">Li, Yingrui</style></author><author><style face="normal" font="default" size="100%">Zhang, Yong</style></author><author><style face="normal" font="default" size="100%">Zhang, Xiuqing</style></author><author><style face="normal" font="default" size="100%">Li, Ruiqiang</style></author><author><style face="normal" font="default" size="100%">Li, Songgang</style></author><author><style face="normal" font="default" size="100%">Yang, Huanming</style></author><author><style face="normal" font="default" size="100%">Nielsen, Rasmus</style></author><author><style face="normal" font="default" size="100%">Wang, Jun</style></author><author><style face="normal" font="default" size="100%">Wang, Jian</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Sequencing of 50 human exomes reveals adaptation to high altitude.</style></title><secondary-title><style face="normal" font="default" size="100%">Science</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Science</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Acclimatization</style></keyword><keyword><style  face="normal" font="default" size="100%">Altitude</style></keyword><keyword><style  face="normal" font="default" size="100%">Asian Continental Ancestry Group</style></keyword><keyword><style  face="normal" font="default" size="100%">Basic Helix-Loop-Helix Transcription Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Bayes Theorem</style></keyword><keyword><style  face="normal" font="default" size="100%">China</style></keyword><keyword><style  face="normal" font="default" size="100%">Erythrocyte Count</style></keyword><keyword><style  face="normal" font="default" size="100%">Ethnic groups</style></keyword><keyword><style  face="normal" font="default" size="100%">Exons</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Frequency</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Association Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome, Human</style></keyword><keyword><style  face="normal" font="default" size="100%">Hemoglobins</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Oxygen</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Selection, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Analysis, DNA</style></keyword><keyword><style  face="normal" font="default" size="100%">Tibet</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2010</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2010 Jul 2</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">329</style></volume><pages><style face="normal" font="default" size="100%">75-8</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Residents of the Tibetan Plateau show heritable adaptations to extreme altitude. We sequenced 50 exomes of ethnic Tibetans, encompassing coding sequences of 92% of human genes, with an average coverage of 18x per individual. Genes showing population-specific allele frequency changes, which represent strong candidates for altitude adaptation, were identified. The strongest signal of natural selection came from endothelial Per-Arnt-Sim (PAS) domain protein 1 (EPAS1), a transcription factor involved in response to hypoxia. One single-nucleotide polymorphism (SNP) at EPAS1 shows a 78% frequency difference between Tibetan and Han samples, representing the fastest allele frequency change observed at any human gene to date. This SNP&#039;s association with erythrocyte abundance supports the role of EPAS1 in adaptation to hypoxia. Thus, a population genomic survey has revealed a functionally important locus in genetic adaptation to high altitude.&lt;/p&gt;
</style></abstract><issue><style face="normal" font="default" size="100%">5987</style></issue><custom1><style face="normal" font="default" size="100%">&lt;p&gt;http://www.ncbi.nlm.nih.gov/pubmed/20595611?dopt=Abstract&lt;/p&gt;
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