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Fig. 2 | Human Genomics

Fig. 2

From: Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences

Fig. 2

Single-marker genetic associations with MT-CN in imputed array data. A Manhattan plot for a genome-wide association test of normalized, WES-measured MT-CN using imputed array genotype data from METSIM (N = 9791). Two loci markers reached the genome-wide significance of 5 × 10-8, identified by lead markers rs2288464 and rs9389268. B Quantile–quantile (QQ) plot for the association test shown in A. This plot is separated by minor allele frequency bin, as indicated by the colors and shapes of the points. C Boxplot showing the distributions of normalized WES-measured MT-CN in METSIM separated by the number of rs9389268 alternate alleles as detected by imputed array genotyping (N = 9791). The EMMAX P value for this variant was 1.62 × 10-8 in imputed data

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Human Genomics

ISSN: 1479-7364