Fig. 3: Gene-level and pathway-level burden test results. | Nature Communications

Fig. 3: Gene-level and pathway-level burden test results.

From: Depletion of loss-of-function germline mutations in centenarians reveals longevity genes

Fig. 3

a Manhattan plot showing the -log10(p-values) for the gene-level burden test in centenarians compared to the control group. Each dot represents a gene, with the x-axis showing the genomic position and the y-axis showing the statistical significance. The red horizontal line indicates the P-value threshold at FDR < 0.05 after adjusted for multiple comparisons. One-sided tests were performed since we only focused on genes with fewer LOF variants in centenarians and the offspring. The top genes reaching FDR < 0.05 are labeled, with those validated in the UK Biobank cohort marked with an “+”. b Pathway enrichment analysis results in centenarians compared to the control group. The scatter plot shows the enriched pathways, with the x-axis representing the expected -log10(p-values) and the y-axis representing the observed -log10(p-values). Two horizontal dashed lines show the P-value threshold at FDR < 0.05 and suggestive threshold of FDR < 0.2 after adjusted for multiple comparisons. One-sided tests were performed. Top pathways are labeled, with pathways passed FDR < 0.05 colored in black and pathways passed suggestive threshold of FDR < 0.2 colored in gray. We also calculated the genomic inflation factor (λ) of 1.57. Top pathways still reach the suggestive threshold of FDR after adjusting for inflation. Source data are provided as a Source Data file.

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