Whole-genome sequencing uncovers the genetic basis of chronic mountain sickness in Andean highlanders.

@article{Zhou2013WholegenomeSU,
  title={Whole-genome sequencing uncovers the genetic basis of chronic mountain sickness in Andean highlanders.},
  author={Dan Zhou and Nitin Udpa and Roy Ronen and Tsering Stobdan and Junbin Liang and Otto Appenzeller and Huiwen W. Zhao and Yi Yin and Yuanping Du and Lixia Guo and Rui Cao and Yu Guang Wang and Xin Jin and Chen Huang and Wenlong Jia and Dandan Cao and Guangwu Guo and Jorge L. Gamboa and Francisco C Villafuerte and David Callacondo and Jin Yu Xue and Siqi Liu and Kelly Frazer and Yingrui Li and Vineet Bafna and Gabriel G. Haddad},
  journal={American journal of human genetics},
  year={2013},
  volume={93 3},
  pages={452-62}
}
The hypoxic conditions at high altitudes present a challenge for survival, causing pressure for adaptation. Interestingly, many high-altitude denizens (particularly in the Andes) are maladapted, with a condition known as chronic mountain sickness (CMS) or Monge disease. To decode the genetic basis of this disease, we sequenced and compared the whole genomes of 20 Andean subjects (10 with CMS and 10 without). We discovered 11 regions genome-wide with significant differences in haplotype… CONTINUE READING
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