Fig. 3

Analysis of disease-associated non-coding mutations and their locus heterogeneity. a Enrichment of HGMD non-coding mutations in different gene regulatory regions. *P < 0.05, **P < 10^–2, ***P < 10^–3. P values calculated using the Z-test on log enrichment. Error bars indicate ± SE. b Fraction of HGMD non-coding mutation pairs causing the same disease. Error bars indicate ± SEM. P values calculated using the cumulative binomial test. c Normalized number of chromosomal contacts for mutation pairs associated with the same disease or different diseases. ***P < 10^–3. P values calculated using the Mann-Whitney U test. Light blue dots indicate the mean. Dark blue lines indicate the median