Genome Sequencing Elucidates Sardinian Genetic Architecture and Augments Association Analyses for Lipid and Blood Inflammatory Markers  

Oleh:

Sidore, Carlo ; Busonero, Fabio ; Maschio, Andrea ; Porcu, Eleonora ; Naitza, Silvia

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Nature Genetics vol. 47 no. 11 (Nov. 2015), page 1272–1281.
Topik: DNA Sequencing; Genome-Wide Association Studies; Population Genetics

Ketersediaan

Perpustakaan FK Nomor Panggil: N12.K Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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