Extended Data Fig. 10: MLC scores versus population frequency or phyloP for heteroplasmies in the UK Biobank.
From: Quantifying constraint in the human mitochondrial genome
The MLC score of single nucleotide variant heteroplasmies in the UK Biobank (UKB) is plotted against their population allele frequency (a) or PhyloP scores (b). Plot in (a) is displayed with a square root transformed y-axis. Note a phyloP score of >3 represents significantly conserved sites with p-value < 0.05. Variant classes in each plot are described in the titles in (a), and the histograms on the right margin show the distribution of variants across the y-axis. R2 coefficient of determination, and a blue line of linear model fit, is shown.
