Systematic localization of common disease-associated variation in regulatory DNA.

@article{Maurano2012SystematicLO,
  title={Systematic localization of common disease-associated variation in regulatory DNA.},
  author={Matthew T. Maurano and Richard Humbert and Eric Rynes and Robert E. Thurman and Eric Haugen and H Wang and Alex P. Reynolds and Richard S. Sandstrom and Hongzhu Qu and Jennifer A Brody and Anthony Shafer and Fidencio V. Neri and Kristen Lee and Tanya Kutyavin and Sandra Stehling-Sun and Audra K. Johnson and Theresa K. Canfield and Erika E Giste and Morgan Diegel and Daniel Bates and R. Scott Hansen and Shane J. Neph and Peter J. Sabo and Shelly Heimfeld and Antony Raubitschek and Steven F. Ziegler and Chris Cotsapas and Nona Sotoodehnia and I. Glass and Shamil R. Sunyaev and Rajinder Kaul and John A. Stamatoyannopoulos},
  journal={Science},
  year={2012},
  volume={337 6099},
  pages={1190-5}
}
Genome-wide association studies have identified many noncoding variants associated with common diseases and traits. We show that these variants are concentrated in regulatory DNA marked by deoxyribonuclease I (DNase I) hypersensitive sites (DHSs). Eighty-eight percent of such DHSs are active during fetal development and are enriched in variants associated with gestational exposure-related phenotypes. We identified distant gene targets for hundreds of variant-containing DHSs that may explain… CONTINUE READING
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