Whole-genome low pass sequencing of 3,514 Sardinian individuals
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ABSTRACT:
PROVIDER: EGAS00001002212 | EGA |
REPOSITORIES: EGA
Publications
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.
Sidore Carlo C Busonero Fabio F Maschio Andrea A Porcu Eleonora E Naitza Silvia S Zoledziewska Magdalena M Mulas Antonella A Pistis Giorgio G Steri Maristella M Danjou Fabrice F Kwong Alan A Ortega Del Vecchyo Vicente Diego VD Chiang Charleston W K CWK Bragg-Gresham Jennifer J Pitzalis Maristella M Nagaraja Ramaiah R Tarrier Brendan B Brennan Christine C Uzzau Sergio S Fuchsberger Christian C Atzeni Rossano R Reinier Frederic F Berutti Riccardo R Huang Jie J Timpson Nicholas J NJ Toniolo Daniela D Gasparini Paolo P Malerba Giovanni G Dedoussis George G Zeggini Eleftheria E Soranzo Nicole N Jones Chris C Lyons Robert R Angius Andrea A Kang Hyun M HM Novembre John J Sanna Serena S Schlessinger David D Cucca Francesco F Abecasis Gonçalo R GR
Nature genetics 20150914 11
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 ...[more]
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