期刊
NATURE
卷 461, 期 7261, 页码 199-205出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nature08451
关键词
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资金
- US National Heart, Lung, and Blood Institute
- Director, Office of Science, Office of Basic Energy Sciences
- US Department of Energy [DE-AC02-05CH11231]
- US National Human Genome Research Institute
In contrast to protein-coding sequences, the significance of variation in non-coding DNA in human disease has been minimally explored. A great number of recent genome-wide association studies suggest that non-coding variation is a significant risk factor for common disorders, but the mechanisms by which this variation contributes to disease remain largely obscure. Distant-acting transcriptional enhancers - a major category of functional non-coding DNA - are involved in many developmental and disease-relevant processes. Genome-wide approaches to their discovery and functional characterization are now available and provide a growing knowledge base for the systematic exploration of their role in human biology and disease susceptibility.
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