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Chunk #48 — Discussion

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Absolute quantification of somatic DNA alterations in human cancer.
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ABSOLUTE provides a framework for the design of studies using genomic sequencing to detect variant alleles in cancer tissue samples, based on calculation of sensitivity to detect mutations as a function of sample purity, local copy-number and sequencing depth (Supplementary Fig. 7). The high accuracy of tumor purity and ploidy estimates produced by ABSOLUTE based on SNP microarray data (Fig. 2) make it possible to determine the sequencing depth required for a given sample or to select suitable samples given a fixed sequencing depth. Such considerations are vital to the interpretation of subclonal point-mutations (Supplementary Fig. 7f, 10).