Fig. 2 | Nature Communications

Fig. 2

From: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Fig. 2

Structural variant discovery at the LPA locus and KIV2-CN imputation. a Nine separate copy number variants were discovered across the EST, JHS, and FIN whole genome sequences. Here, these are shown by plotting sample-level normalized read depth against the position along the hg19 reference genome at the LPA locus (with the black line denoting median read depth across all individuals). The KIV2-CN is shown in the highlighted region and each unique non-gray line outside of this region depicts a discovered structural variant (described further in Supplementary Table 4). b The random forest importance of each variant in the 61-variant KIV2-CN imputation model developed in FIN is shown against its genomic position, with KIV2-CN region highlighted and the top five rsIDs labeled. c Correlation of directly genotyped KIV2-CN and imputed KIV2-CN from 738 FIN individuals with WGS in the validation dataset (with Pearson correlation, Rp = 0.78). EST Estonian biobank, FIN FINRISK, JHS Jackson Heart Study, KIV2-CN kringle IV-2 copy number