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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Integration of genomic copy number variations and chemotherapy-response biomarkers in pediatric sarcoma

Fig. 2

Detection of CNVs by aCGH in 206 patient tumor biopsies from pediatric sarcomas (OS, RMS, and ESFTs). (a1) Frequency plots of genome CNV. Band frequencies (CNV deletion and amplification) in OS (horizontal axis, from 0 to 100%) are plotted as a function of chromosome location (from 1pter to the top, to 22qter to the bottom) and compared with the healthy population (DGV). Horizontal lines indicate chromosome boundaries. Positive and negative values indicate frequencies of tumors showing copy number increase and decrease, respectively, with amplifications of copy number (in red) and deletions of copy number (in blue). (a2) Unsupervised hierarchical clustering of genome CNVs measured for OS on whole genome with largest gain/lost standard variation. Red indicates increased DNA copy number (CNV gain/amplification) and blue indicates decreased DNA copy number (CNV loss/deletion). Below the dendrogram, each column represents a clinical sample; the status of sample collection is denoted in shades of green (see key at bottom of heat map for Relapse/Dead, Non-relapse/Alive, and Relapse/Alive); each row indicates genes and associated chromosomes. (b1) Band frequency plots CNVs (deletion and amplification) among ESFTs compared with healthy individuals. (b2) CNVs for ESFT patients were analyzed as described in A2. Below the dendrogram, color at top of each column indicates the diagnosis of the clinical samples (localized disease, metastasis, or non-metastatic). Each row indicates genes and associated chromosome. (c1) Band frequency plots of the healthy individuals and RMS patients were analyzed as described in A2. (c2) CNVs for RMS patients were analyzed as described in A2

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