Fig. 2

Genotyping of single nucleotide variants from bulk tumor exome sequences in the single-cell sequences. a, b Heat maps per tumor, where each row represents either a single somatic substitution called on the corresponding bulk exome and the matched blood (a) or a random heterozygous germline SNP (20 total) (b), and columns represent the different single cell (DTC, normal, or AU) or exome datasets obtained for that tumor. Tile colors reflect the detection of the variant allele (orange), of the reference allele only (blue), or whether there was no coverage at that position (white). Only DTCs, but no normal or AU cells, share mutations with the tumor. A single mutation shared between normal cell 107B and the tumor of MicMa107 was later confirmed as a missed heterozygous germline variant (indicated with an asterisk). For clarity, loci with zero coverage in all of the single cells of that patient are omitted. c Modeled probability of observing an at least equally extreme pattern of somatic reference and variant alleles for that cell only through false positives (i.e., the cell derives from another lineage and has none of the tumor’s somatic mutations) or false negatives (the cell derives from the tumor and contains these specific somatic mutations). Model results are encoded as heat maps of − log₁₀(p)