Figure 5.
Genome-wide association for germline variants associated with clonal hematopoiesis detected by WGS-outlier status. (A) Manhattan plot of association [expressed as –log10(P)] with WGS-outlier status, determined using logistic regression. (B) Locus zoom of the signal in the TERT gene on chromosome 5. The location of the 8-bp indel rs34002450 (chr5:1280825) giving the strongest signal is indicated by a purple diamond. Other variants are plotted in colors corresponding to their r2 values relative to rs34002450, as indicated in the legend. Recombination rates, in cM/Mb and based on Icelandic data, are plotted as a red line. The lower panel shows the locations of RefSeq genes and the chromosomal position (GRCh38/hg38).