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Chunk #29 — Discussion

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Rare variants create synthetic genome-wide associations.
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It has been suggested that rare high-penetrant variants would produce a signal inconsistent with those observed in many common traits in favor of models with thousands of common variants with marginal penetrance [36]. We have shown that multiple rare variants in a region are capable of acting over large distances to create associations in common variants similar to observed associations. A key point is that multiple rare causal variants may be causing the observed associations, therefore a single haplotype would be insufficient to explain such associations.