Fig. 3
From: Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank
Functional enrichment analysis of annotated genes within runs of homozygosity (ROH) Islands. This figure presents the results of functional enrichment analysis on genes identified within ROH islands located in shorter ROH regions (>100 KB), detected in the BirThree dataset via BCFtools (by setting 99.9th percentile threshold based on the frequencies of overlapping ROH100 regions shared among individuals). The gProfiler tool was utilized to identify enriched biological pathways (BP), molecular functions (MF), and cellular components (CC) from Gene Ontology (GO), KEGG, and Reactome. The y-axis displays the enrichment score, indicating statistical significance, while the x-axis and color coding represent the data source. Dot size corresponds to the number of genes associated with each term. A summary of comparative statistics with other dataset (3.5KJPNv2) and tool (PLINK) is also provided. Full figures and statistics related to all analysis can be found in Supplementary Figs. S2A–B and Tables S2A–F
