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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...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4627508/ https://www.ncbi.nlm.nih.gov/pubmed/26366554 http://dx.doi.org/10.1038/ng.3368 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Sidore, Carlo |
| collection | PubMed |
| description | 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 Genomes Project). We assessed the impact of these variants on circulating lipid levels and five inflammatory biomarkers. Fourteen signals, including two major new loci, were observed for lipid levels, and 19, including two novel loci, for inflammatory markers. New associations would be missed in analyses based on 1000 Genomes data, underlining the advantages of large-scale sequencing in this founder population. |
| format | Online Article Text |
| id | pubmed-4627508 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2015 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-46275082016-05-01 Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers 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 Nat Genet Article 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 Genomes Project). We assessed the impact of these variants on circulating lipid levels and five inflammatory biomarkers. Fourteen signals, including two major new loci, were observed for lipid levels, and 19, including two novel loci, for inflammatory markers. New associations would be missed in analyses based on 1000 Genomes data, underlining the advantages of large-scale sequencing in this founder population. 2015-09-14 2015-11 /pmc/articles/PMC4627508/ /pubmed/26366554 http://dx.doi.org/10.1038/ng.3368 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article 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 Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers |
| title | Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers |
| title_full | Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers |
| title_fullStr | Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers |
| title_full_unstemmed | Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers |
| title_short | Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers |
| title_sort | genome sequencing elucidates sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4627508/ https://www.ncbi.nlm.nih.gov/pubmed/26366554 http://dx.doi.org/10.1038/ng.3368 |
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