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. Author manuscript; available in PMC: 2018 Sep 1.

Published in final edited form as: Atherosclerosis. 2017 Jul 22;264:58–66. doi: 10.1016/j.atherosclerosis.2017.07.024

Fig. 2 — (A) Overlap between the 22 LDL-C regions with an LOD score >1.0, exome variants (non-synonymous or frameshift variants with a MAF<10%), and 9 family-specific LDL-C GWAS variants identified in the Austrian family members, as illustrated by rCircos (37). The outer most track indicates the chromosome number, followed by the cytoband; the scatter plot shows the LOD scores of the ~95K SNPs from the linkage analysis (red indicates a LOD score >1.0 using a scale of 0–2.25); next to the scatter plot are the exome variants predominantly present in the affected family members (Supplementary Table 2) that reside in the regions with LOD>1.0; the inner most track indicates the 9 family-specific GWAS SNPs (Table 2), and the gene names (or the closest gene) of the variants are shown inside of the circle; the yellow highlight indicates that the variant was identified by exome sequencing. (B) Overlap between the Lp(a) regions with an LOD score >1.0 and exome variants (potentially functional and MAF<10%) identified in the Austrian family members, as illustrated by rCircos (37). The outer most track indicates the chromosome number, followed by the cytoband; the scatter plot shows the LOD scores of the ~95K SNPs from the linkage analysis (red indicates a LOD >1.0, using a scale of 0–1.5); and the inner most track indicates the exome variants present only in the family members with high Lp(a).

Fig. 2 — (A) Overlap between the 22 LDL-C regions with an LOD score >1.0, exome variants (non-synonymous or frameshift variants with a MAF<10%), and 9 family-specific LDL-C GWAS variants identified in the Austrian family members, as illustrated by rCircos (37). The outer most track indicates the chromosome number, followed by the cytoband; the scatter plot shows the LOD scores of the ~95K SNPs from the linkage analysis (red indicates a LOD score >1.0 using a scale of 0–2.25); next to the scatter plot are the exome variants predominantly present in the affected family members (Supplementary Table 2) that reside in the regions with LOD>1.0; the inner most track indicates the 9 family-specific GWAS SNPs (Table 2), and the gene names (or the closest gene) of the variants are shown inside of the circle; the yellow highlight indicates that the variant was identified by exome sequencing. (B) Overlap between the Lp(a) regions with an LOD score >1.0 and exome variants (potentially functional and MAF<10%) identified in the Austrian family members, as illustrated by rCircos (37). The outer most track indicates the chromosome number, followed by the cytoband; the scatter plot shows the LOD scores of the ~95K SNPs from the linkage analysis (red indicates a LOD >1.0, using a scale of 0–1.5); and the inner most track indicates the exome variants present only in the family members with high Lp(a).