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Fig. 1 | Genome Biology

Fig. 1

From: Hidden biases in germline structural variant detection

Fig. 1

Overall study design and variability. A Sequencing and analysis overview of the Chinese quartet. The samples were sequenced in three replicates at three different centers. The files were then analyzed by four different mappers including base quality score recalibration (recal) and duplicate read marking (dedup). B Overlap and level of support between the different centers, replicates, and SV mappers. C Heatmap of the percent overlap between the different samples (red = high, yellow = low). D Assessing Mendelian consistency in identical twins compared to parents by mapper. The x-axis shows SVs that were called in replicates from identical twins (3 replicates x 3 centers x 2 twins = 18 replicates). The y-axis shows the percentage of SVs that were called in at least one of the replicates in parents (LCL7 and LCL8). E Distribution of SV events along the differently generated sample files for LCL5

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