Nature Communications (Oct 2022)

High-resolution genome topology of human retina uncovers super enhancer-promoter interactions at tissue-specific and multifactorial disease loci

  • Claire Marchal,
  • Nivedita Singh,
  • Zachary Batz,
  • Jayshree Advani,
  • Catherine Jaeger,
  • Ximena Corso-Díaz,
  • Anand Swaroop

DOI
https://doi.org/10.1038/s41467-022-33427-1
Journal volume & issue
Vol. 13, no. 1
pp. 1 – 16

Abstract

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The genome-wide high-resolution chromatin contact of the human retina identifies genetic control of cell-type specific gene expression pattern, missing heritability in retinopathies, and candidate genes/variants for diseases including AMD and glaucoma.