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Fig. 1 | Genome Biology

Fig. 1

From: The impact of rare and low-frequency genetic variants in common disease

Fig. 1

The allele frequency spectrum for a genome-wide association study variants (Additional file 1) and b sequenced variants that were associated with a variety of traits (Table 3 and Additional file 1). There is a clear shift to lower allele frequencies for variants discovered in sequencing studies. c The effect size versus allele frequency for sequenced variants; i.e. to detect associations that involve variants with lower allele frequencies, higher effect sizes are needed or large sample sizes. Effect size is usually measured as “beta” for quantitative traits and as “odds ratio” for dichotomous traits

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