Abstract:
: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.
journal_name
Naturejournal_title
Natureauthors
Visel A,Rubin EM,Pennacchio LAdoi
10.1038/nature08451subject
Has Abstractpub_date
2009-09-10 00:00:00pages
199-205issue
7261eissn
0028-0836issn
1476-4687pii
nature08451journal_volume
461pub_type
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