@article {309665,
	title = {Sequencing of 50 human exomes reveals adaptation to high altitude.},
	journal = {Science},
	volume = {329},
	year = {2010},
	month = {2010 Jul 2},
	pages = {75-8},
	abstract = {<p>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{\textquoteright}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.</p>
},
	keywords = {Acclimatization, Altitude, Asian Continental Ancestry Group, Basic Helix-Loop-Helix Transcription Factors, Bayes Theorem, China, Erythrocyte Count, Ethnic groups, Exons, Female, Gene Frequency, Genetic Association Studies, Genome, Human, Hemoglobins, Humans, Male, Oxygen, Polymorphism, Single Nucleotide, Selection, Genetic, Sequence Analysis, DNA, Tibet},
	issn = {1095-9203},
	doi = {10.1126/science.1190371},
	author = {Yi, Xin and Liang, Yu and Huerta-S{\'a}nchez, Emilia and Jin, Xin and Cuo, Zha Xi Ping and Pool, John E and Xu, Xun and Jiang, Hui and Vinckenbosch, Nicolas and Korneliussen, Thorfinn Sand and Zheng, Hancheng and Liu, Tao and He, Weiming and Li, Kui and Luo, Ruibang and Nie, Xifang and Wu, Honglong and Zhao, Meiru and Cao, Hongzhi and Zou, Jing and Shan, Ying and Li, Shuzheng and Yang, Qi and Ni, Peixiang and Tian, Geng and Xu, Junming and Liu, Xiao and Jiang, Tao and Wu, Renhua and Zhou, Guangyu and Tang, Meifang and Qin, Junjie and Wang, Tong and Feng, Shuijian and Li, Guohong and Luosang, Jiangbai and Wang, Wei and Chen, Fang and Wang, Yading and Zheng, Xiaoguang and Li, Zhuo and Bianba, Zhuoma and Yang, Ge and Wang, Xinping and Tang, Shuhui and Gao, Guoyi and Chen, Yong and Luo, Zhen and Gusang, Lamu and Cao, Zheng and Zhang, Qinghui and Ouyang, Weihan and Ren, Xiaoli and Liang, Huiqing and Zheng, Huisong and Huang, Yebo and Li, Jingxiang and Bolund, Lars and Kristiansen, Karsten and Li, Yingrui and Zhang, Yong and Zhang, Xiuqing and Li, Ruiqiang and Li, Songgang and Yang, Huanming and Nielsen, Rasmus and Wang, Jun and Wang, Jian}
}
