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Chunk #41 — Discussion

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A groupwise association test for rare mutations using a weighted sum statistic.
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In summary, we show that the weighted-sum method is powerful for identifying multiple rare mutations underlying genetically heterogeneous diseases. Under some genetic scenarios, 1000 affected and 1000 unaffected individuals are sufficient to identify e.g. a gene with a PAR of only 1%, corresponding to an odds ratio of 1.1. These findings thus demonstrate that resequencing studies have the potential to identify important genetic associations, provided specialised analysis methods are used.