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Table 1.

Variant calling software tools.

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Table 2.

Classification of germline and somatic events.

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Table 2 Expand

Table 3.

Post-processing checks performed by qSNP.

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Table 4.

Details of verification using amplicon-based sequencing on the Ion Torrent.

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Figure 1.

Non-independent reads confounding mutation calls.

Read pairs are colored by the chromosome map position of the second read in the pair. MarkDuplicates fails to correctly identify these non-independent read pairs as PCR duplicates due to the different map locations of the second read.

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Figure 1 Expand

Table 5.

Controlled mixture experiment to assess the effect of reducing tumor purity on somatic mutation detection using the SOLiD v4 platform.

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Figure 2.

Overlap in somatic mutation calls.

Verified somatic mutation calls were compared across three callers in 5 different tumor purity mixtures. Values are number of calls in 100%, 80%, 60%, 40% and 20% tumor content mixture, from top to bottom.

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Table 6.

Controlled mixture experiment to assess the effect of reducing tumor purity on somatic mutation detection using the HiSeq2000 platform.

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Table 7.

Benchmarking qSNP on sequencing data from the SOLiD v4 and HiSeq 2000 platforms using COLO-829 variants verified by either WTSI (WTSI only, qSNP+WTSI) or QCMG (qSNP only).

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