2015年中国医学遗传学研究领域若干重要进展

doi:10.16288/j.yczz.16-174

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HEREDITAS(Beijing) ›› 2016, Vol. 38 ›› Issue (5): 363-390.doi: 10.16288/j.yczz.16-174

• Invited Review • Next Articles

Research advances on medical genetics in China in 2015

Yuanfeng Li¹, Yubo Han², Pengbo Cao¹, Jinfeng Meng¹, Haibei Li¹, Geng Qin¹, Feng Zhang³, Guangfu Jin⁴, Yong Yang⁵, Lingqian Wu⁶, Jie Ping¹, Gangqiao Zhou¹

1. State Key Laboratory of Proteomics, Beijing Proteome Research Center, Beijing Institute of Radiation Medicine, Beijing 100850, China;
2. Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China;
3. State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai 200438, China;
4. State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China;
5. Department of Dermatology, Peking University First Hospital, Beijing 100034, China;
6. State Key Laboratory of Medical Genetics, Central South University, Changsha 410008, China

Received:2016-04-27 Revised:2016-05-13 Online:2016-05-20 Published:2016-05-19

Abstract

Abstract: Steady progress has been achieved in the medical genetics in China in 2015, as numerous original researches were published in the world’s leading journals. Chinese scientists have made significant contributions to various fields of medical genetics, such as pathogenicity of rare diseases, predisposition of common diseases, somatic mutations of cancer, new technologies and methods, disease-related microRNAs (miRNAs), disease-related long non-coding RNAs (lncRNAs), disease-related competing endogenous RNAs (ceRNAs), disease-related RNA splicing and molecular evolution. In these fields, Chinese scientists have gradually formed the tendency, from common variants to rare variants, from single omic analyses to multipleomics integration analyses, from genetic discovery to functional confirmation, from basic research to clinical application. Meanwhile, the findings of Chinese scientists have been drawn great attentions of international peers. This review aims to provide an overall picture of the front in Chinese medical genetics, and highlights the important findings and their research strategy.

Key words: China, medical genetics, epigenetics, research advances, 2015

Yuanfeng Li, Yubo Han, Pengbo Cao, Jinfeng Meng, Haibei Li, Geng Qin, Feng Zhang, Guangfu Jin, Yong Yang, Lingqian Wu, Jie Ping, Gangqiao Zhou. Research advances on medical genetics in China in 2015[J]. HEREDITAS(Beijing), 2016, 38(5): 363-390.

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Research advances on medical genetics in China in 2015

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