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Fig. 1 | BMC Bioinformatics

Fig. 1

From: Cross-population analysis for functional characterization of type II diabetes variants

Fig. 1

Workflow of multi-level functional overlap analysis for disease-associated genomic variants identified in different populations. The computational pipeline takes as input a set of genomic loci that are found to be significantly associated with a disease of interest in each of the populations that are considered. It then maps these loci to functional elements with coarser granularity, first considering linkage disequilibrium, then mapping loci to protein-coding genes, subsequently mapping these genes to biological pathways, and finally identifying functionally associated subsets of these genes via network analysis. At each level, the resulting functional elements that are found to be associated with the disease are compared across populations, to systematically characterize the overlap between different populations

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