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Fig. 1. Number of rare variants observed (or well imputed) for different strategies for assaying genetic variation in a 50 kb gene, as a function of the size of the reference panel.

Fig. 2. Power, at a nominal significance level of P < 0.05, to detect association of an accumulation of minor alleles with a quantitative trait, for different strategies for assaying rare genetic variation in a 50 kb gene, as a function of the genotyping and sequencing error rate.

Fig. 3. Quantile-quantile plots summarising association of seven diseases from the WTCCC experiment with accumulations of well imputed rare variants (MAF < 1% and info score of at least 0.4) within genes (as defined by the UCSC human genome database).

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