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

doi:10.1038/ng.3368

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Article

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

Nature genetics - 1 Nov 2015

Sidore Carlo, Busonero Fabio, Maschio Andrea, Porcu Eleonora, Naitza Silvia, Zoledziewska Magdalena, Mulas Antonella, Pistis Giorgio, Steri Maristella, Danjou Fabrice, Kwong Alan, Ortega Del Vecchyo Vicente Diego, Chiang Charleston W K, Bragg-Gresham Jennifer, Pitzalis Maristella, Nagaraja Ramaiah, Tarrier Brendan, Brennan Christine, Uzzau Sergio, Fuchsberger Christian, Atzeni Rossano, Reinier Frederic, Berutti Riccardo, Huang Jie, Timpson Nicholas J, Toniolo Daniela, Gasparini Paolo, Malerba Giovanni, Dedoussis George, Zeggini Eleftheria, Soranzo Nicole, Jones Chris, Lyons Robert, Angius Andrea, Kang Hyun M, Novembre John, Sanna Serena, Schlessinger David, Cucca Francesco, Abecasis Gonçalo R

Abstract excerpt

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...

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PMID: 26366554
DOI: 10.1038/ng.3368
PMCID: PMC4627508

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