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Chunk #109 — Online Methods — Inference of point mutation multiplicity

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Absolute quantification of somatic DNA alterations in human cancer.
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Consider an observed somatic point-mutation of unknown copy sq ∈ sq, observed allelic fraction f̂, and with n total reads covering the locus. The complete likelihood of f̂ may represented as a mixture of beta distributions corresponding to each element of sq, plus an additional component S corresponding to subclonal states: