VitiVar

VitiVar catalogs and integrates genes and genetic variations associated with vitiligo from curated literature and expression datasets to enable network-based identification and prioritization of candidate genes.

Key Features:

• Literature curation: Curates vitiligo-associated data from 202 PubMed-indexed articles.
• Gene and variant catalog: Compiles a catalog of 322 genes and 254 variations linked to vitiligo.
• Cell-type expression stratification: Stratifies genetic data by expression status in specific skin cell types.
• Data integration: Integrates publicly available datasets and proprietary vitiligo expression data for contextual analysis.
• Interactome construction: Generates a vitiligo interactome using GeneMANIA and overlays vitiligo-specific and cell-type-specific data onto the network.
• Candidate prioritization: Identified 20 novel genes, including IFI27 and IFI6, which were prioritized for further validation.

Scientific Applications:

• Candidate gene prioritization: Prioritizes candidate genes such as IFI27 and IFI6 for experimental validation.
• Network-based discovery: Enables discovery of novel disease-associated genes through interactome analysis with GeneMANIA.
• Variant contextualization: Contextualizes genetic variants by linking them to cell-type-specific expression patterns in skin.
• Hypothesis generation: Provides leads for downstream functional interrogation and hypothesis-driven studies of vitiligo pathogenesis.

Methodology:

Data were curated from 202 PubMed-indexed articles to compile 322 genes and 254 variations; genetic data were stratified by expression status in specific skin cell types using publicly available datasets and proprietary vitiligo expression data; a vitiligo interactome was generated with GeneMANIA and vitiligo-specific and cell-type-specific data were overlaid to identify and prioritize 20 novel genes including IFI27 and IFI6.