Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
Nature. 2011 Feb 10;470(7333):187-97. doi: 10.1038/nature09792.
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.
人类基因组序列的测定极大地加速了生物医学研究。本文探讨了自该序列发表以来的十年间,它对我们理解基因组中编码的生物功能、遗传性疾病和癌症的生物学基础以及人类物种的进化和历史所产生的影响。我还讨论了在实现基因组学对医学的承诺方面未来的道路。