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Nature Research, Nature Genetics, 11(47), p. 1272-1281

DOI: 10.1038/ng.3368

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Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

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This paper is available in a repository.

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Data provided by SHERPA/RoMEO

Abstract

We report ∼17.6 million genetic variants from whole-genome sequencing of 2,120 Sardinians; 22% are absent from previous sequencing-based compilations and are enriched for predicted functional consequences. Furthermore, ∼76,000 variants common in our sample (frequency >5%) are rare elsewhere (<0.5% in the 1000 Genomes Project). We assessed the impact of these variants on circulating lipid levels and five inflammatory biomarkers. We observe 14 signals, including 2 major new loci, for lipid levels and 19 signals, including 2 new loci, for inflammatory markers. The new associations would have been missed in analyses based on 1000 Genomes Project data, underlining the advantages of large-scale sequencing in this founder population.