Identifying independent causal cell types for human diseases and risk variants.

Abstract excerpt

Genome-wide association studies (GWASs) have shown that disease-associated variants are concentrated in candidate regulatory elements (cREs) from disease-relevant cell types. Here, we introduce cell-type fine-mapping (CT-FM) and CT-FM-SNP, probabilistic methods that account for cRE sharing across cell types to infer independent causal cell-type sets for complex traits and candidate causal variants. Applying CT-FM...

Topics

• Humans
• Genome-Wide Association Study
• Polymorphism, Single Nucleotide
• Genetic Predisposition to Disease
• Phenotype
• Quantitative Trait Loci