Whole-Exome Sequencing for the Identification of Susceptibility Genes of Kashin–Beck Disease

@inproceedings{Yang2014WholeExomeSF,
  title={Whole-Exome Sequencing for the Identification of Susceptibility Genes of Kashin–Beck Disease},
  author={Zhenxing Yang and Yu Xu and Hongrong Luo and Xiaohong Ma and Qiang Sheng Wang and Yingcheng Wang and Wei Deng and Tao Jiang and Guangqing Sun and Tingting He and Jingchu Hu and Yingrui Li and Jun Wang and Tao Li and Xun Hu},
  booktitle={PloS one},
  year={2014}
}
OBJECTIVE To identify and investigate the susceptibility genes of Kashin-Beck disease (KBD) in Chinese population. METHODS Whole-exome capturing and sequencing technology was used for the detection of genetic variations in 19 individuals from six families with high incidence of KBD. A total of 44 polymorphisms from 41 genes were genotyped from a total of 144 cases and 144 controls by using MassARRAY under the standard protocol from Sequenom. Association was applied on the data by using PLINK1… CONTINUE READING
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