Dataset Information


Whole-genome low pass sequencing of 3,514 Sardinian individuals

ABSTRACT: The dataset includes the VCF files with the list of variants, and their frequency, found in 3,514 Sardinian individuals recruited from the SardiNIA longitudinal study (N=2090) and from a case-control study of autoimmune diseases in Sardinia (N=1424).

PROVIDER: EGAS00001002212 | EGA |


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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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