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Chunk #9 — Results — Inference of sample purity and ploidy in cancer-derived DNA

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Absolute quantification of somatic DNA alterations in human cancer.
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A conceptual overview of ABSOLUTE is shown in Figure 1. When DNA is extracted from an admixed population of cancer and normal cells, the information on absolute copy number per cancer cell is lost in the mixing. The purpose of ABSOLUTE is to re-extract these data from the mixed DNA population. This process begins by generation of segmented copy number data, which is input to the ABSOLUTE algorithm together with pre-computed models of recurrent cancer karyotypes and, optionally, allelic fraction values for somatic point mutations. The output of ABSOLUTE then provides re-extracted information on the absolute cellular copy number of local DNA segments and, for point mutations, the number of mutated alleles (Figure 1).