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Chunk #27 — Issues related to phenotype harmonization — The sample size-phenotype heterogeneity paradox

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Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience.
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combined they did achieve significance with an effect size and confidence comparable to that reported in the discovery set. This suggests that the association between CAV1 and CAV2 gene variants and POAG represents a true positive and that pooling samples during the phenotype harmonization process can provide power even in the face of phenotype heterogeneity during gene discovery, although this might not be generalizeable to all complex traits.