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Figure 1 | Genome Biology

Figure 1

From: Towards a comprehensive structural variation map of an individual human genome

Figure 1

Overall workflow of the current study. Two distinct technologies were used to identify SV in the Venter genome: whole genome sequencing and genomic microarrays. The sequencing experiments, the construction of the Venter genome assembly, and the assembly comparison with NCBI build 36 (B36) reference had been completed in previous studies [1, 16, 39]. Hence, these experiments are shown as blue boxes. The scope of the current study is denoted in orange boxes. We re-analyzed the initial sequencing data, and searched for SVs in sequence alignments by the mate-pair and split-read approaches. We also used three distinct comparative genomic hybridization (CGH) array platforms: Agilent 24 M, NimbleGen 42 M and Agilent 244 K. Unlike the other array platforms, which were designed based on the B36 assembly, the Agilent 244 K targeted scaffold segments unique to the Celera/Venter assembly. To denote this, Figure 1 shows a dotted line connecting between the assembly comparison outcome and the Agilent 244 K box. Finally, the Affymetrix 6.0 and Illumina 1 M SNP arrays were also used in the present study.

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