Figure 1.
Example of a Fine-Mapping Locus in Three Different Populations
In population 1 (left), the causal variants are present, but strong regional LD makes it difficult to distinguish them from tagging SNPs. In population 2 (middle), the causal variants both have a very low frequency and/or are monomorphic, resulting in no observable association between the SNPs and the trait. In population 3 (right), the causal variants are common and have few tagging SNPs. Our framework jointly models population-specific LD structure and integrates functional genomic data to prioritize causal variants.