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Small island, big genetic discoveries

Nature Genetics volume 47, pages 1224–1225 (2015)Cite this article

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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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Authors and Affiliations

  1. Guillaume Lettre is at the Montreal Heart Institute, Montreal, Quebec, Canada, and the Faculté de Médecine, Université de Montréal, Montreal, Quebec, Canada.,

    Guillaume Lettre

  2. Joel N. Hirschhorn is at the Division of Endocrinology and Center for Basic and Translational Obesity Research, and the Department of Genetics, Boston Children's Hospital, Boston, Massachusetts, USA, the Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA, Harvard Medical School, Boston, Massachusetts, USA.,

    Joel N Hirschhorn

Authors
  1. Guillaume Lettre
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  2. Joel N Hirschhorn
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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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