VAMPIRE

VAMPIRE annotates and prioritizes GWAS variants to identify likely regulatory noncoding variants and variant‑gene links for functional follow-up in studies of complex traits such as hematological characteristics.

Key Features:

• Variant annotation: Aggregates annotations for GWAS variants including impacts on protein structure, gene expression levels, functional and conservation summary scores.
• Integration of diverse data sources: Integrates epigenomic signatures from blood cell‑relevant tissues or cells, functional and conservation summary scores, protein structural impact annotations, gene expression effects, chromatin conformation data, and public GWAS and PheWAS results.
• Prioritization for experimental validation: Systematically prioritizes variants, genes, and variant‑gene links based on combined evidence from the integrated data sources to identify candidates for experimental follow-up.
• Experimental validation correlation: Prioritized variants are reported to be significantly more likely to be validated in independent functional experiments.

Scientific Applications:

• Variant-to-function (V2F) analyses: Provides a structured approach for systematic V2F analyses linking GWAS noncoding signals to candidate regulatory elements and target genes.
• Hematological trait interpretation: Focuses on interpreting and prioritizing GWAS variants associated with hematological characteristics to elucidate functional mechanisms.
• Applicability to other complex traits: The annotation and prioritization approach can be adapted to other complex traits to guide targeted experimental follow-up.

Methodology:

Aggregates data from epigenomic signatures, functional and conservation summary scores, protein structure and gene expression impact annotations, chromatin conformation data, and public GWAS and PheWAS results, and applies a comprehensive evidence‑based prioritization to rank variants, genes, and variant‑gene links.