DE BAERE LAB
  • Home
  • News
  • Research
    • IRD
    • Gonads
    • Omics
  • Team
  • Publications
  • Alumni
  • CONTACT

new paper on multi-omics analysis in human retina

10/10/2023

 
NEW PAPER ALERT!

By Alfredo Duenas Rey & Victor Lopez Soriano
​

Cross-species genome comparisons have revealed a substantial number of ultraconserved non-coding elements (UCNEs). Several of these elements have proved to be essential tissue- and cell type-specific 
cis-regulators of developmental gene expression. Here, we characterized a set of UCNEs as candidate CREs (cCREs) during retinal development and evaluated the contribution of their genomic variation to rare eye diseases, for which pathogenic non-coding variants are emerging. Integration of bulk and single-cell retinal multi-omics data revealed 594 genes under potential cis-regulatory control of UCNEs, of which 45 are implicated in rare eye disease. Mining of candidate cis-regulatory UCNEs in WGS data derived from the rare eye disease cohort of Genomics England revealed 178 ultrarare variants within 84 UCNEs associated with 29 disease genes. Overall, we provide a comprehensive annotation of ultraconserved non-coding regions acting as cCREs during retinal development which can be targets of non-coding variation underlying rare eye diseases.
NEW PAPER

Comments are closed.
De Baere Lab © 2025
  • Home
  • News
  • Research
    • IRD
    • Gonads
    • Omics
  • Team
  • Publications
  • Alumni
  • CONTACT