TargetGene

TargetGene annotates genetic variants with their target genes to facilitate identification of causal variants and elucidation of regulatory mechanisms underlying complex human diseases.

Key Features:

• Multi-Omics Data Integration: Incorporates a comprehensive catalog of single-cell and bulk multi-omics data across human tissues, cell types, and developmental stages.
• Analytical Methods for SNP-to-Gene Connections: Establishes connections between Single Nucleotide Polymorphisms (SNPs) and target genes using chromatin co-accessibility, 3D genomic interactions, enhancer activity, and quantitative trait loci (QTL) analysis.
• GWAS Variant Evaluation: Applies analytical approaches to variants from nearly 1300 Genome-Wide Association Studies (GWAS) to generate an atlas of multiscale variant regulation.

Scientific Applications:

• Identifying causal variants: Prioritizes candidate causal variants by linking SNPs to putative target genes.
• Context-specific regulation: Resolves regulatory effects of variants across tissues, cell types, and developmental stages.
• Gene regulation and disease etiology: Supports investigation of gene regulatory mechanisms and genetic contributions to complex disease etiology.
• Translational and precision studies: Informs selection of candidate target genes for translational research and precision-medicine analyses.

Methodology:

Integrates single-cell and bulk multi-omics data and applies chromatin co-accessibility, 3D genomic interaction mapping, enhancer activity assessment, and quantitative trait loci (QTL) analyses to link SNPs to target genes, with methods applied to variants from nearly 1300 GWAS.