Extended Data Fig. 9: Regional variation in allele frequencies by functional annotation.
From: Exome sequencing of Finnish isolates enhances rare-variant association power
Enrichment of variants by allelic class in regional subpopulations of late-settlement Finland (defined in Supplementary Table 17). Each bin represents the ratio of variants in the subpopulation compared to the reference subpopulation (NSv3), after down-sampling the frequency spectra of all populations to 200 chromosomes. Pink cells represent enrichment (ratio >1), blue cells represent depletion (ratio <1). Sample sizes and confidence intervals for each enrichment ratio and the associated P values are presented in Supplementary Table 18. The results are consistent with multiple bottlenecks in late-settlement Finland, particularly for populations in Lapland and Northern Ostrobothnia. *P < 0.05; **P < 0.01; ***P < 0.005.
