美国华盛顿大学John Stamatoyannopoulos、Wouter Meuleman等研究人员合作绘制出人类DNase I超敏位点（DHS）的索引图谱。这一研究成果于2020年7月29日发表在《自然》上。
Title: Index and biological spectrum of human DNase I hypersensitive sites
Author: Wouter Meuleman, Alexander Muratov, Eric Rynes, Jessica Halow, Kristen Lee, Daniel Bates, Morgan Diegel, Douglas Dunn, Fidencio Neri, Athanasios Teodosiadis, Alex Reynolds, Eric Haugen, Jemma Nelson, Audra Johnson, Mark Frerker, Michael Buckley, Richard Sandstrom, Jeff Vierstra, Rajinder Kaul, John Stamatoyannopoulos
Abstract: DNase I hypersensitive sites (DHSs) are generic markers of regulatory DNA1,2,3,4,5 and contain genetic variations associated with diseases and phenotypic traits6,7,8. We created high-resolution maps of DHSs from 733 human biosamples encompassing 438 cell and tissue types and states, and integrated these to delineate and numerically index approximately 3.6 million DHSs within the human genome sequence, providing a common coordinate system for regulatory DNA. Here we show that these maps highly resolve the cis-regulatory compartment of the human genome, which encodes unexpectedly diverse cell- and tissue-selective regulatory programs at very high density. These programs can be captured comprehensively by a simple vocabulary that enables the assignment to each DHS of a regulatory barcode that encapsulates its tissue manifestations, and global annotation of protein-coding and non-coding RNA genes in a manner orthogonal to gene expression. Finally, we show that sharply resolved DHSs markedly enhance the genetic association and heritability signals of diseases and traits. Rather than being confined to a small number of distal elements or promoters, we find that genetic signals converge on congruently regulated sets of DHSs that decorate entire gene bodies. Together, our results create a universal, extensible coordinate system and vocabulary for human regulatory DNA marked by DHSs, and provide a new global perspective on the architecture of human gene regulation.