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Chunk #35 — Discussion

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A groupwise association test for rare mutations using a weighted sum statistic.
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from some variants are grouped with wild-type alleles from other variants it may hide a true signal. As stated in the Background section, it may be natural to treat e.g. non-synonymous substitutions, frame shift indels and very rare alleles as mutations, but when there is no information to classify the alleles, grouping methods may not be useful. Instead the idea from the CMC method can be used, such that the variants that can be grouped are analysed with a grouping statistic (e.g. the weighted-sum method), and all other variants are analysed variant by variant or by multivariate analysis.