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Chunk #95 — Online Methods — Power calculation for somatic mutation detection in cancer tissue samples

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Absolute quantification of somatic DNA alterations in human cancer.
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We develop a framework for calculation of statistical power for the detection of mutations. Power to detect a variant depends on the allelic fraction f and local depth of coverage n. To calculate power, we model the idealized scenario in which random sequencing errors occur uniformly with rate ε. We calculate a minimum number of supporting reads k such that the probability of observing k or more identical non-reference reads due to sequencing error is less than a defined false-positiverate (FPR):