Reconstruction of clone- and haplotype-specific cancer genome karyotypes from bulk tumor samples

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Figure 4.
Figure 4.

ReMixT karyotypes from heterogeneous prostate cancer samples have numerous violations of the generalized infinite sites constraints. In A, C, and E, solid edges represent segment edges, black-dashed edges represent reference adjacency edges, and red dashed edges represent novel adjacency edges. Integer values indicate copy numbers of corresponding segment and adjacency edges. (A) An intra-genome violation of the homologous-extremity-exclusivity constraint. To achieve copy number balance, both homologous vertices Formula and Formula from genome Gi must be involved in novel adjacencies. (B) Number of novel adjacencies that violate the intra-genome homologous-extremity-exclusivity constraint in each cancer karyotype inferred by ReMixT in each sample. (C) An inter-genome violation of the homologous-extremity-exclusivity constraint. To achieve copy number balance, both homologous vertices Formula and Formula (in different genomes) must be involved in novel adjacencies. (D) The fraction x/y, where x is the number of novel adjacencies that violate the inter-genome homologous-extremity-exclusivity constraint (on at least one of the extremities involved in a novel adjacency) in ReMixT karyotypes, and y is the total number of novel adjacencies reported by ReMixT as being present in both genomes. (E) A violation of the intra-genome homologous-reciprocal-extremity-exclusivity constraint. To achieve copy number balance, both homologous-reciprocal vertices Formula and Formula must be involved in novel adjacencies. Inter-genome violations of the homologous-reciprocal-extremity-exclusivity constraint are also possible (Supplemental Fig. S17). (F) Fraction x/y, where x is the number of reciprocal locations with violations of either intra- or inter-genome (or both) homologous-reciprocal-extremity-exclusivity constraint in ReMixT karyotypes; and y is the total number of reciprocal locations that both have novel adjacencies in ReMixT karyotypes.

This Article

  1. Genome Res. 30: 1274-1290

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