Research Explorer

Project

MultiRET: Multiomics profiling of human retina in health and retinopathies
Code
bof/baf/2y/2024/01/007
Duration
01 January 2024 → 31 December 2024
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Medical and health sciences
    • Analysis of next-generation sequence data
    • Bioinformatics data integration and network biology
    • Bioinformatics of disease
    • Computational transcriptomics and epigenomics
    • Single-cell data analysis
    • Developmental biology
    • Epigenetics
    • Genetics
    • Stem cell biology
    • Ophthalmology
Keywords
Retinal pigment epithelium Pore-C 3D genome Topologically associated domain (TAD) Structural variants Optical genome mapping Hi-C Capture-C Single-molecule technologies Retina Non-coding variation Long-read sequencing Regulome
 
Project description
 

The non-coding genome or ‘dark matter’ makes up 98% of the human genome. While a vast majority of single nucleotide (SNVs) or structural variants (SVs) associated with complex eye diseases are present in non-coding regions, the number increases for Mendelian eye diseases such as inherited retinal diseases (IRD). We will advance the understanding of the retinal regulome and of non-coding variation in IRD using innovative single-molecule -omics approaches.

Characterization of multi-way 3D genomic interactions on human retina

  1. Pore-C on clinically accessible tissues (PBMCs/LCLs/ fibroblasts)
  2. Pore-C on retinal (stem cell) models: donor retina, RPE, PPCs/ROs (different stages)
  3. Pore-C at cell-type level of donor retina, ROs

Assessment of the impact of SVs using patient-derived data/retinal models

  1. Identification of SVs in short-read WGS data
  2. Characterization of complex SVs using single-molecule technologies (OGM, ONT, PacBio)
  3. Assessment of the impact of SVs using 3D genome topology (Pore-C)
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