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Small island, big genetic discoveries

Three new studies have identified new genes and sequence variants implicated in blood lipids, inflammatory markers, hemoglobin levels and adult height variation in Sardinia. These reports highlight the usefulness of large-scale genotype imputation based on whole-genome sequencing, particularly in isolated populations, in studying the genetics of complex human phenotypes.

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Figure 1: Sardinia was initially populated by people who originated mostly from the Iberian and Italian peninsulas.

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Correspondence to Guillaume Lettre or Joel N Hirschhorn.

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Lettre, G., Hirschhorn, J. Small island, big genetic discoveries. Nat Genet 47, 1224–1225 (2015). https://doi.org/10.1038/ng.3426

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