Decon2

Decon2 estimates cell-type proportions from bulk gene expression or methylation profiles and deconvolutes whole-blood eQTLs into cell type interaction (CTi) eQTLs to identify cell-specific regulatory effects.

Key Features:

• Decon-cell: Estimates proportions of circulating cell types in bulk blood using gene expression or methylation profiles, achieving correlation coefficients (R) > 0.77 versus experimental measurements across cohorts.
• Decon-eQTL: Deconvolutes whole-blood eQTLs into cell type interaction (CTi) eQTLs using estimated cell proportions to detect regulatory effects specific to particular cell types.
• Integration with existing data: CTi eQTLs exhibit allelic directional concordance of 96–100% with traditional eQTL studies and 87–92% with chromatin mark QTL studies.
• Identification of disease-relevant cell types: Pinpoints cell type-specific regulatory effects to identify the most relevant cell types associated with complex diseases.

Scientific Applications:

• Cell-type-specific eQTL mapping: Resolves bulk-tissue eQTL signals into cell-type-specific regulatory variants.
• Prioritization of cell types in disease research: Identifies cell types most relevant to complex diseases by linking regulatory effects to specific cell populations.
• Cross-data validation of regulatory variants: Refines interpretation of regulatory variants through concordance with traditional eQTLs and chromatin mark QTLs.

Methodology:

Estimates cell proportions from gene expression or methylation profiles using statistical models calibrated to experimental measurements, then deconvolutes whole-blood eQTLs into CTi eQTLs based on those estimated cell proportions.