EyeDiseases

EyeDiseases integrates multi-omics datasets to enable analysis of genetic, transcriptomic, and epigenetic factors underlying human eye diseases.

Key Features:

• Extensive dataset integration: Consolidates genetic variants, bulk and single-cell RNA sequencing gene expression, and epigenomic data, comprising 1344 disease-associated genes with documented genetic variations, 1774 transcription files, and 105 epigenomics datasets across 185 human eye diseases.
• GWAS and co-expression integration: Integrates Genome-Wide Association Study (GWAS) loci with co-expression data to link loci to candidate genes.
• Pathway and gene-level analysis: Identifies genes associated with pathways such as the HIF-1 signaling pathway and complexes such as the voltage-gated potassium channel complex in Age-related Macular Degeneration (AMD).
• SARS-CoV-2 ocular tropism analysis: Supports analysis of expression and correlation of SARS-CoV-2 entry factors ACE2 and TMPRSS2 with specific eye conditions including cornea and keratoconus.

Scientific Applications:

• Candidate locus and gene identification: Enables identification and prioritization of candidate loci and genes contributing to eye disease pathogenesis using integrated multi-omics data.
• Molecular diagnosis and therapeutic target discovery: Supports analyses aimed at molecular diagnosis and prioritization of therapeutic targets for ocular diseases.
• Assessment of ocular infection susceptibility: Facilitates evaluation of tissue susceptibility to pathogens by analyzing expression of entry factors such as ACE2 and TMPRSS2.
• Pathway-centric investigations in AMD: Allows linking of GWAS loci and co-expression patterns to specific molecular pathways and protein complexes implicated in AMD.

Methodology:

Systematic multi-omics data integration of genetic variants, bulk and single-cell RNA-seq, and epigenomic datasets; integration of GWAS loci with co-expression data; correlation analysis of ACE2 and TMPRSS2 expression with ocular conditions.