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Initial impact of the sequencing of the human genome

Abstract

The sequence of the human genome has dramatically accelerated biomedical research. Here I explore its impact, in the decade since its publication, on our understanding of the biological functions encoded in the genome, on the biological basis of inherited diseases and cancer, and on the evolution and history of the human species. I also discuss the road ahead in fulfilling the promise of genomics for medicine.

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Figure 1: Evolutionary conservation maps.
Figure 2: Chromatin state maps.
Figure 3: Disease association maps.
Figure 4: Cancer genome maps.
Figure 5: Positive selection maps.

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Acknowledgements

This review reflects collective ideas, insightful conversations and contributions shared by many colleagues at the Broad Institute and elsewhere. In particular, I wish to express my gratitude to D. Altshuler, J. Baldwin, B. Bernstein, B. Birren, C. Burge, F. Collins, M. Daly, M. DePristo, E. Eichler, A. Futreal, L. Garraway, T. Golub, E. Green, C. Gunter, M. Guyer, M. Guttman, D. Haussler, E. Hechter, J. Hirschhorn, D. Hung, D. Jaffe, S. Kathiresan, L. Kruglyak, E. Lieberman, R. Lifton, K. Lindblad-Toh, S. McCarroll, A. Meissner, T. Mikkelsen, R. Myers, R. Nicol, C. Nusbaum, L. Pennacchio, R. Plenge, A. Regev, D. Reich, J. Rinn, P. Sabeti, V. Sankaran, S. Schreiber, P. Sklar, M. Stratton, H. Varmus, P. Visscher, A. Wolf and O. Zuk. I also thank B. Wong and L. Gaffney for assistance with figures.

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Correspondence to Eric S. Lander.

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Lander, E. Initial impact of the sequencing of the human genome. Nature 470, 187–197 (2011). https://doi.org/10.1038/nature09792

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