Fig. 5: Contribution of SNVs with high and low aPC functionality to the observed heritability of CAD.
From: Rare variant contribution to the heritability of coronary artery disease
a Proportion of each LD score-MAF-Functionality bin to the global CAD heritability estimate for eight aPCs (Phred = 20 for all, except aPC-Mutation-Density and aPC-Local-Nucleotide-Diversity for which Phred = 10). Each label in the legend represents a combination of: i) MAF (UR: ultra-rare (MAF ≤ 0.1%), R: rare (0.1% < MAF ≤ 1%), UC: uncommon (1% < MAF ≤ 10%), C: common (10% <MAF ≤ 50%)); ii) LD score (LO: low, HI: high); and iii) Functionality (Low, High). b Log functionality ratio of high over low functionality in each LD score-MAF bin for each aPC. Each label on the y-axis is defined as in (a). Error bars show ± one SE from each log functionality ratio estimate. SEs are calculated from GCTA’s output of the covariance matrix of contribution estimates to heritability in each bin and their corresponding number of SNVs (see Supplementary “Methods” for derivation). CAD, coronary artery disease; EpiAct, aPC-Epigenetics-Active; EpiRep, aPC-Epigenetics-Repressed; EpiTrans, aPC-Epigenetics-Transcription; Funct, functionality; LD, linkage disequilibrium; MAF, minor allele frequency; Map, aPC-Mappability; MutDens, aPC-Mutation-Density; NucDiv, aPC-Local-Nucleotide-Diversity; Prox, aPC-Proximity-To-TSS-TES; SNV, single nucleotide variant; Trans, aPC-Transcription-Factor.
