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Fig. 2 | Genome Medicine

Fig. 2

From: Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination

Fig. 2

Most putative metastatic driver mutations were not detected within rare primary tumor subclones. A Detection power of WES and UDS-UMI sequencing technologies in terms of the minimum percent of cells in which the mutation must be present to be detected with 95% confidence (minCCF95%). B Proportion of metastatic driver mutations that were undetected within primary tumors by UDS-UMI/UDG versus those that were detected in major (≥50% of cells), minor (<50% of cells), or rare (\(\lesssim\) 20% of cells) subclones. C The number of detected and undetected metastatic driver mutations within antecedent primary tumors in each patient assayed. D Detection power increased with higher molecular tag coverage, reaching a maximum of 0.9% of cells at >4k MT coverage. E Proportions of metastatic driver mutations that were undetected by UDS-UMI/UDG within rare primary tumor subclones as a function of molecular tag coverage. Limiting mutation sites to those with progressively higher coverage identifies a lower-bound of 82% of mutations that remain undetected, even at highest molecular tag coverage. F Detection power in primary tumors for UDS-UMI/UDG (dark bars) and WES (light bars) for a representative set of sites for mutations that were not detected by either technology. Mutations that were assayed in multiple regions of the same primary tumor, but were not identified, are labeled in colors other than grey. Black arrow heads indicate WES detection power > 60% of cells

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