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Chunk #14 — Methods — Power Simulations — Frequency Spectra

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A groupwise association test for rare mutations using a weighted sum statistic.
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For computational simplicity, under the Recessive-Set model, mutations are drawn with the same probability for each variant in a group. The mutation probability is calculated such that the probability (pM) that a haplotype contains at least one disease-risk mutation is fixed in unaffected individuals. In concordance with human resequencing studies we use pM = 10% as baseline [5],[16], but we have investigated other values also.