1. Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers
- Author
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Nicholas J. Timpson, George Dedoussis, Brendan Tarrier, Alan Kwong, Gonçalo R. Abecasis, Charleston W. K. Chiang, Serena Sanna, Riccardo Berutti, Chris Jones, Andrea Angius, Eleftheria Zeggini, Ramaiah Nagaraja, Giorgio Pistis, Hyun Min Kang, Andrea Maschio, Maristella Steri, Paolo Gasparini, Eleonora Porcu, Silvia Naitza, Christine Brennan, Magdalena Zoledziewska, Carlo Sidore, Christian Fuchsberger, Francesco Cucca, Giovanni Malerba, Vicente Diego Ortega Del Vecchyo, Nicole Soranzo, Sergio Uzzau, Rossano Atzeni, Robert H. Lyons, Antonella Mulas, Jie Huang, John Novembre, Frederic Reinier, David Schlessinger, Jennifer L. Bragg-Gresham, Fabio Busonero, Fabrice Danjou, Daniela Toniolo, Maristella Pitzalis, Sidore, Carlo, Busonero, Fabio, Maschio, Andrea, Porcu, Eleonora, Naitza, Silvia, Zoledziewska, Magdalena, Mulas, Antonella, Pistis, Giorgio, Steri, Maristella, Danjou, Fabrice, Kwong, Alan, Del Vecchyo, Vicente Diego Ortega, 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, Chri, Lyons, Robert, Angius, Andrea, Kang, Hyun M., Novembre, John, Sanna, Serena, Schlessinger, David, Cucca, Francesco, Abecasis, Gonçalo R., Faculteit Medische Wetenschappen/UMCG, and Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)
- Subjects
Adolescent ,Adult ,Aged ,Aged, 80 and over ,Biomarkers ,Female ,Founder Effect ,Gene Frequency ,Genetics, Population ,Genome, Human ,Genome-Wide Association Study ,Genotype ,Geography ,Haplotypes ,Humans ,Inflammation Mediators ,Italy ,Lipids ,Male ,Middle Aged ,Polymorphism, Single Nucleotide ,Sequence Analysis, DNA ,Young Adult ,Genetic Variation ,Genetics ,Haplotype ,80 and over ,Non-U.S. Gov't ,Inflammation Mediator ,Exome sequencing ,Genome ,Research Support, Non-U.S. Gov't ,Single Nucleotide ,Lipid ,Inflammatory biomarkers ,Sequence Analysis ,Human ,Population ,Biology ,Research Support ,DNA sequencing ,Article ,N.I.H ,Research Support, N.I.H., Extramural ,Journal Article ,1000 Genomes Project ,Polymorphism ,Genetic variants ,Extramural ,Biomarker ,DNA ,Genetic architecture ,Founder effect - Abstract
We report similar to 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, similar to 76,000 variants common in our sample (frequency >5%) are rare elsewhere (
- Published
- 2015