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Chunk #104 — Online Methods — Inference of point mutation multiplicity

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Absolute quantification of somatic DNA alterations in human cancer.
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We develop a probabilistic model for inference of the integer multiplicities for both germline and somatic variants, based on knowledge of tumor purity and genome-wide absolute copy-numbers. Denote the absolute homologous copy-numbers at a mutant locus as q1 and q2, with q1 ≥ q2. The possible multiplicities of germline variants are then: