Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants (original) (raw)

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Acknowledgements

This project was funded by the Lundbeck Foundation and produced by The Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention and Care (LuCAMP). The project was also supported by a National Basic Research Program of China (973 program no. 2011CB809200; 2007CB815703; 2007CB815705; and 863 program no. 2006AA02Z177; 2006AA02Z334; 2006AA02A302; 2009AA022707), the Chinese Academy of Science (GJHZ0701-6), the National Natural Science Foundation of China (30725008; 30890032; 30811130531; 30221004), the Chinese Academy of Science (GJHZ0701-6), the Chinese 973 program (2007CB815703; 2007CB815705), the Chinese 863 program (2006AA02Z177), the Danish Platform for Integrative Biology and the Ole Rømer grant from the Danish Natural Science Research Council. The Shenzhen Municipal Government and the Yantian District Local Government of Shenzhen additionally funded the project (grants JC200903190767A; JC200903190772A; ZYC200903240076A; CXB200903110066A; ZYC200903240077A; ZYC200903240076A and ZYC200903240080A). N.V. and E.H.-S. were supported with fellowships from the Swiss and American National Science Foundations. We are indebted to T. Lauritzen and K. Borch-Johnsen for their contribution to LuCAMP.

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Author notes

1. Yingrui Li, Nicolas Vinckenbosch, Geng Tian, Emilia Huerta-Sanchez and Tao Jiang: These authors contributed equally to this work.

Authors and Affiliations

1. BGI-Shenzhen, Shenzhen, China
   Yingrui Li, Geng Tian, Tao Jiang, Hui Jiang, Hongzhi Cao, Yiran Guo, Xin Jin, Qibin Li, Jiangtao Liu, Xiao Liu, Meifang Tang, Honglong Wu, Renhua Wu, Chang Yu, Hancheng Zheng, Lars Bolund, Karsten Kristiansen, Xiuqing Zhang, Ruiqiang Li, Huanming Yang, Jian Wang & Jun Wang
2. Department of Integrative Biology, University of California Berkeley, Berkeley, California, USA
   Nicolas Vinckenbosch, Emilia Huerta-Sanchez & Rasmus Nielsen
3. Department of Statistics, University of California Berkeley, Berkeley, California, USA
   Emilia Huerta-Sanchez & Rasmus Nielsen
4. Department of Biology, University of Copenhagen, Copenhagen, Denmark
   Anders Albrechtsen, Thorfinn Korneliussen, Karsten Kristiansen, Ruiqiang Li, Rasmus Nielsen & Jun Wang
5. Hagedorn Research Institute, Copenhagen, Denmark
   Gitte Andersen, Niels Grarup, Thomas Sparsø, Johan Holmkvist, Torben Hansen & Oluf Pedersen
6. Department of Mathematics, University of Vienna, Vienna, Austria
   Ines Hellman
7. School of Bioscience and Biotechnology, South China University of Technology, Guangzhou, China
   Xin Jin & Hancheng Zheng
8. Department of Human Nutrition, Faculty of Life Sciences, University of Copenhagen, Copenhagen, Denmark
   Arne Astrup
9. Institute of Human Genetics, University of Aarhus, Aarhus, Denmark
   Lars Bolund
10. Danish Center for Translational Breast Cancer Research, Copenhagen, Denmark
    Lars Bolund
11. Research Centre for Prevention and Health, Glostrup University Hospital, Glostrup, Denmark
    Torben Jørgensen
12. Faculty of Health Science, University of Copenhagen, Copenhagen, Denmark
    Torben Jørgensen
13. Department of Endocrinology and Diabetes, Aarhus University Hospital, Aarhus, Denmark
    Ole Schmitz
14. Department of Clinical Pharmacology, University of Aarhus, Aarhus, Denmark
    Ole Schmitz
15. Laboratory for Molecular Pharmacology, University of Copenhagen, Copenhagen, Denmark
    Thue W Schwartz
16. Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark
    Torben Hansen
17. Faculty of Health Sciences, University of Aarhus, Aarhus, Denmark
    Oluf Pedersen
18. Institute of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark
    Oluf Pedersen

Authors

1. Yingrui Li
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2. Nicolas Vinckenbosch
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3. Geng Tian
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4. Emilia Huerta-Sanchez
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5. Tao Jiang
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6. Hui Jiang
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7. Anders Albrechtsen
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8. Gitte Andersen
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9. Hongzhi Cao
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10. Thorfinn Korneliussen
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11. Niels Grarup
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12. Yiran Guo
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13. Ines Hellman
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14. Xin Jin
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15. Qibin Li
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16. Jiangtao Liu
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17. Xiao Liu
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18. Thomas Sparsø
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19. Meifang Tang
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20. Honglong Wu
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21. Renhua Wu
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22. Chang Yu
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23. Hancheng Zheng
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24. Arne Astrup
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25. Lars Bolund
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26. Johan Holmkvist
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27. Torben Jørgensen
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28. Karsten Kristiansen
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29. Ole Schmitz
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30. Thue W Schwartz
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31. Xiuqing Zhang
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32. Ruiqiang Li
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33. Huanming Yang
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34. Jian Wang
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35. Torben Hansen
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36. Oluf Pedersen
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37. Rasmus Nielsen
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38. Jun Wang
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Contributions

LuCamp was founded and is managed by O.P., Jun Wang, R.N., T.H., G.A., L.B., O.S., T. Lauritzen, K.K., T. Jørgensen, A. Astrup, T.W.S. and A. Albrechtsen. Y.L., N.V., G.T., E.H.-S. and T. Jiang contributed equally to this work. H.Y., Jian Wang, O.P. and Jun Wang managed the present project. Jun Wang, R.N., O.P. and Y.L. designed the analyses. O.P., T.H. and T. Jørgensen recruited the volunteers and prepared the DNA samples. Jun Wang, R.N., Y.L., N.V., E.H.-S., T. Jiang, A. Albrechtsen, H.C., T.K., Y.G., X.J., Q.L., H.W., C.Y., H.Z. and O.P. performed the data analyses. G.T., H.J., J.L., X.L., M.T., R.W. and X.Z. performed sequencing and Sequenom genotyping. Jun Wang, R.N., O.P., N.V., E.H.-S. and Y.L. wrote the first manuscript. All authors contributed to the final manuscript.

Corresponding authors

Correspondence toOluf Pedersen, Rasmus Nielsen or Jun Wang.

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The authors declare no competing financial interests.

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Li, Y., Vinckenbosch, N., Tian, G. et al. Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants.Nat Genet 42, 969–972 (2010). https://doi.org/10.1038/ng.680

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• Received: 08 February 2010
• Accepted: 08 September 2010
• Published: 03 October 2010
• Issue Date: November 2010
• DOI: https://doi.org/10.1038/ng.680