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Chunk #16 — Pitfalls of the analysis — Pitfall 1: Validation and discovery sample overlap

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Pitfalls of predicting complex traits from SNPs.
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occurs is when testing the prediction in the discovery sample, i.e., the same data are used to estimate the effect of SNPs on phenotype and to make predictions53, 54 . We illustrate the overlap pitfall with examples in dairy cattle, Drosophila and human populations (FIG 2a-c). . For example, in a GWAS on ~150 sequenced inbred lines of Drosophila54 in which this was done the authors concluded that 6–10 SNPs selected from > 1M SNPs together explained 51–72% of variation in the lines (depending on the trait analysed). However, a cross-validated Bayesian prediction analysis using all genetic markers on the same data found that only 6% of phenotypic variation could be explained by the predictor51.