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Chunk #16 — Methods — Power Simulations — Disease-risk contributing variants and disease-risk neutral variants

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A groupwise association test for rare mutations using a weighted sum statistic.
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Because not all probable disease susceptibility mutations (non-synonymous substitutions, frameshift mutations etc.) contribute to disease-risk, we simulate both disease-risk contributing variants (D-variants) and disease-risk neutral variants (N-variants). Under all genetic models, the N-variants are sampled with the same genotype probabilities in affected and unaffected individuals, and the frequency spectrum of mutations follows Wright's formula.