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Chunk #16 — 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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To help resolve ambiguous cases, we used recurrent cancer-karyotype models based on large data sets of samples (Supplementary Fig. 2; Online Methods Eq. 8) to identify the simplest (that is, most common) karyotype that can adequately explain the data. This method favors simpler solutions, while preserving the flexibility to identify unexpected karyotypes given sufficient evidence from fitting the copy-profile. Indeed, several unusual karyotypes, including near-haploid (<1.2n) and hyper-aneuploid (>6n) genomes, were identified using ABSOLUTE (Supplementary Fig. 2).