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Figure 3 | BMC Genomics

Figure 3

From: Validation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human population

Figure 3

Box plots of read depths at concordant/discordant SNP loci among the NGSs and Omni 2.5-8. A) Box plots of the NGS read depth at the SNP loci showing concordance/discordance between the NGSs and Omni 2.5-8. The box indicates the first and third quartiles and the lines indicate the highest and lowest value that is within 1.5 x inter-quartile range. Outliers were omitted. The graph on the left indicates the distribution of read depths at HiSeq2500 SNP loci and the graph on the right indicates the distribution of read depths at Ion Proton and Omni 2.5-8 SNP loci. B) Box plots of the NGS read depths at the SNP loci showing concordance/discordance among the three platforms. The box indicates the first and third quartiles and the lines indicate the highest and lowest value that is within 1.5 x inter-quartile range. Outliers were omitted. The three columns (shaded gray rectangle) from right indicate the distribution of read depths of the discordant SNPs between the NGSs and Omni 2.5-8. The read depth at SNP loci that showed Ion Proton discordance against HiSeq 2500 and Omni 2.5-8 was significantly different. The read depths at SNP loci for SNPs that both HiSeq 2500 and Ion Proton failed to call are shown in the gray box.

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BMC Genomics

ISSN: 1471-2164

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