Figure 2
Dynamic relationship of mutation to LOH on chromosome 13. A cell with 2 copies of a given chromosome (A) can gain a mutation (star) in 1 copy (B) and subsequently delete the unaltered copy, giving rise to a mixed population of cells (C) that then, through selection, results in a clonal population of cells with a mutation and deletion (D); or alternatively, the original cell (A) could delete 1 copy of the chromosome (E) and subsequently a subpopulation mutates the remaining allele (F) that is the selected for giving rise to a clonal population with both deletion and mutation (D). Samples are shown next to the cell genotype, as defined by sequencing and copy number data, along with the mutated gene on chromosome 13. Synonymous and NS (underlined) SNVs are shown. Asterisk indicates interstitial deletion of RB1 region detected with mutation in a region of normal copy number.

Dynamic relationship of mutation to LOH on chromosome 13. A cell with 2 copies of a given chromosome (A) can gain a mutation (star) in 1 copy (B) and subsequently delete the unaltered copy, giving rise to a mixed population of cells (C) that then, through selection, results in a clonal population of cells with a mutation and deletion (D); or alternatively, the original cell (A) could delete 1 copy of the chromosome (E) and subsequently a subpopulation mutates the remaining allele (F) that is the selected for giving rise to a clonal population with both deletion and mutation (D). Samples are shown next to the cell genotype, as defined by sequencing and copy number data, along with the mutated gene on chromosome 13. Synonymous and NS (underlined) SNVs are shown. Asterisk indicates interstitial deletion of RB1 region detected with mutation in a region of normal copy number.

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