Code
bof/baf/2y/2024/01/007
Duration
01 January 2024 → 31 December 2024
Funding
Regional and community funding: Special Research Fund
Promotor
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
- Pore-C on clinically accessible tissues (PBMCs/LCLs/ fibroblasts)
- Pore-C on retinal (stem cell) models: donor retina, RPE, PPCs/ROs (different stages)
- Pore-C at cell-type level of donor retina, ROs
Assessment of the impact of SVs using patient-derived data/retinal models
- Identification of SVs in short-read WGS data
- Characterization of complex SVs using single-molecule technologies (OGM, ONT, PacBio)
- Assessment of the impact of SVs using 3D genome topology (Pore-C)