Article
Personal and population genomics of human regulatory variation.
Genome research - 1 Sept 2012
Vernot Benjamin, Stergachis Andrew B, Maurano Matthew T, Vierstra Jeff, Neph Shane, Thurman Robert E, Stamatoyannopoulos John A, Akey Joshua M
Abstract excerpt
The characteristics and evolutionary forces acting on regulatory variation in humans remains elusive because of the difficulty in defining functionally important noncoding DNA. Here, we combine genome-scale maps of regulatory DNA marked by DNase I hypersensitive sites (DHSs) from 138 cell and tissue types with whole-genome sequences of 53 geographically diverse individuals in order to better delimit the patterns...
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