Fig. 8.

B-SCITE mutation histories for two cases of colorectal cancer with liver metastases³⁹. a CRC1 (CO5) and (b) CRC2 (CO8). Mutations are annotated with the VAFs of the two bulk samples (left: primary tumour, right: liver metastasis). Bulk data come from whole-exome sequencing (at 75.5× depth and 97.33% coverage) of pooled flow-sorted single cells (for aneuploidy detection). Single-cell data come from targeted panel sequencing (T1000 cancer gene panel) at mean depth 137× with an average coverage of 0.92. B-SCITE was run on mutations detected in the panel sequencing that had a minimum read depth of 20 in the bulk samples. Cells without any of the remaining mutations were discarded for being non-informative in the tree inference. These filtering steps left 12 mutations and 72 single cells for CRC1 (CO5), and 25 mutations and 86 single cells for CRC2 (CO8). Fluctuating VAFs are likely due to a combination of CNAs and artefacts from limited sequencing depth in the whole-exome sequencing data. Note that in CRC2, APC and SPEN have each two independent point mutations denoted as (APC_1, APC_2, SPEN_1 and SPEN_2)