Additional file 4: Figure S2. of Case report: whole exome sequencing of primary cardiac angiosarcoma highlights potential for targeted therapies

Chromosome 1 copy number plot outputs illustrating 1q32 amplification. Plots represent outputs from (2A upper panel) LOH and allelic imbalance analysis, and (2A lower panel) copy number analysis. 2A upper panel, chromosome 1 plot with map position in megabases on the X-axis, and the B-allele frequency (BAF) on the Y-axis revealing chromosomal allelic imbalances. 2A lower panel, chromosome 1 plot with map position in megabases on the X-axis, and the log2 fold change ratio information on the Y-axis. 2B shows 10 megabase zoomed region of chromosome 1 (1q32) amplicon. 2B upper panel, chromosome 1 zoomed in plot with map position in megabases on the X-axis, and the B-allele frequency (BAF) on the Y-axis revealing chromosomal allelic imbalance at this region. 2B lower panel, chromosome 1 zoomed in plot with map position in megabases on the X-axis, and the log2 fold change ratio information on the Y-axis. The map postion related to the MDM4 gene locus is depicted as a purple line on each plot. (ZIP 1288Â kb)

展示1号染色体1q32区域扩增的染色体拷贝数绘图结果。本系列绘图对应两类分析的输出：(2A上图)杂合性丢失（Loss of Heterozygosity, LOH）与等位基因失衡分析，以及(2A下图)拷贝数分析。2A上图为1号染色体绘图，横轴以百万碱基（megabases, Mb）为单位标注图谱位置，纵轴为B等位基因频率（B-allele frequency, BAF），用以展示染色体等位基因失衡情况。2A下图为1号染色体绘图，横轴以百万碱基为单位标注图谱位置，纵轴为log2倍数变化比值信息。2B展示了1号染色体1q32扩增区域的10百万碱基放大视图。2B上图为1号染色体放大绘图，横轴以百万碱基为单位标注图谱位置，纵轴为B等位基因频率，用以展示该区域的染色体等位基因失衡情况。2B下图为1号染色体放大绘图，横轴以百万碱基为单位标注图谱位置，纵轴为log2倍数变化比值信息。每张绘图中均以紫色线条标注了与MDM4基因座相关的图谱位置。(ZIP 1288 KB)