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Fig. 1 | Genome Biology

Fig. 1

From: A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency

Fig. 1

Overall flow diagram of process/method. Discovery of Class 1 variants came from consensus analysis of WES1/2/3/4 runs on overlapping WES kit target regions having high confidence. Additional Class 2 variants were discovered after analyzing WGS1 with WES results. Variants were confirmed by analyzing in silico A results where we combined individual BAMs from each cell line replicate and by analyzing merged-BAM Sample A from pooled Sample A individual replicate BAMs. Finally, a subset of these variants was orthogonally validated with ddPCR

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Genome Biology

ISSN: 1474-760X

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