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Variation across the allele frequency spectrum

A new study finds that individuals with high plasma triglyceride levels carry approximately twice as many rare, coding genetic variants within four candidate genes identified through genome-wide association studies than individuals without these high levels. This study demonstrates the overlap of rare and common variant signals at loci associated with lipid levels and shows the value of efforts to extend susceptibility variant discovery to embrace the full allele-frequency spectrum.

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Figure 1: Genetic susceptibility variants across the allele frequency spectrum.


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Correspondence to Mark I McCarthy.

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Gloyn, A., McCarthy, M. Variation across the allele frequency spectrum. Nat Genet 42, 648–650 (2010).

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