Extended Data Fig. 6: Statistical power comparison of ML-based COPD without MRB COPD cases with Hobbs et al.7. COPD GWAS. | Nature Genetics

Extended Data Fig. 6: Statistical power comparison of ML-based COPD without MRB COPD cases with Hobbs et al.7. COPD GWAS.

From: Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models

Extended Data Fig. 6: Statistical power comparison of ML-based COPD without MRB COPD cases with Hobbs et al.7. COPD GWAS.

a) The X-axis is the -log p-value of Hobbs et al.7 COPD GWAS. The Y-axis is the -log p-value of the ML-based COPD restricted to control samples (that is, no cases) based on the MRB label. Both p-values are computed using two-sided tests and no adjustment for multiple hypothesis tests. The vertical and horizontal red line indicates the genome-wide significance level. The diagonal red line indicates the y = x. The orange dots indicate variants-in-hits that are significant for Hobbs et al.7 COPD GWAS but not significant for our ML-based COPD and green dots indicate variants-in-hits that are significant for our ML-based COPD but not significant for the Hobbs et al.7 COPD GWAS. b) Effect size correlation of ML-based COPD and Hobbs et al.7 COPD GWAS. The X-axis is the effect size of Hobbs et al.7 COPD GWAS for all GWS variants-in-hits and Y-axis is the effect size of our ML-based COPD. It is worth noting that the effect sizes from this analysis, which conditions on control status, are potentially subject to selection bias. Light red band is the 95% confidence interval (for example, band) of effect size correlation.

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