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

We report ~17.6M genetic variants from whole-genome sequencing of 2,120 Sardinians; 22% are absent from prior sequencing-based compilations and enriched for predicted functional consequence. Furthermore, ~76K variants common in our sample (frequency >5%) are rare elsewhere (<0.5% in the 1000 G...

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Publicado en:Nat Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: 2015
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4627508/
https://ncbi.nlm.nih.gov/pubmed/26366554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3368
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