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Figure 1 | BMC Genomics

Figure 1

From: Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing

Figure 1

Our t NGS test model, study design and established workflow. Panel A summarizes the established workflow, while panel B lists the bioinformatics approach. In panel C, the three sequential stages are summarized. The first stage represents the proof-of-principle on E. coli enrichment, the second stage evaluated the multiplexing capacities, and the third stage demonstrated the application of the pipeline on clinically relevant human target genes. For the data analysis, we tested different mapping tools and approaches as shown in this Figure. (WG stands for whole genome, TR for target region, SAET for Spectral Analysis Enhancement Tool, AUC for area under the ROC curve, ADoC for average depth of coverage, and EF for enrichment factor). Finally, we applied our TR/backmapping pipeline to public exome data (lower panel).

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