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

Carlo Sidore; Fabio Busonero; Andrea Maschio; Eleonora Porcu; Silvia Naitza; Magdalena Zoledziewska; Antonella Mulas; Giorgio Pistis; Maristella Steri; Fabrice Danjou; Alan Kwong; Vicente Diego Ortega Del Vecchyo; Charleston W K Chiang; Jennifer Bragg-Gresham; Maristella Pitzalis; Ramaiah Nagaraja; Brendan Tarrier; Christine Brennan; Sergio Uzzau; Christian Fuchsberger; Rossano Atzeni; Frederic Reinier; Riccardo Berutti; Jie Huang; Nicholas J. Timpson; Daniela Toniolo; Paolo Gasparini; Giovanni Malerba; George Dedoussis; Eleftheria Zeggini; Nicole Soranzo; Chris Jones; Robert Lyons; Andrea Angius; Hyun M. Kang; John Novembre; Serena Sanna; David Schlessinger; Francesco Cucca; Gonçalo R. Abecasis

doi:10.1038/ng.3368

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

Carlo Sidore, Fabio Busonero, Andrea Maschio, Eleonora Porcu, Silvia Naitza, Magdalena Zoledziewska, Antonella Mulas, Giorgio Pistis, Maristella Steri, Fabrice Danjou, Alan Kwong, Vicente Diego Ortega Del Vecchyo, Charleston W K Chiang, Jennifer Bragg-Gresham, Maristella Pitzalis, Ramaiah Nagaraja, Brendan Tarrier, Christine Brennan, Sergio Uzzau, Christian FuchsbergerRossano Atzeni, Frederic Reinier, Riccardo Berutti, Jie Huang, Nicholas J. Timpson, Daniela Toniolo, Paolo Gasparini, Giovanni Malerba, George Dedoussis, Eleftheria Zeggini, Nicole Soranzo, Chris Jones, Robert Lyons, Andrea Angius, Hyun M. Kang, John Novembre, Serena Sanna, David Schlessinger, Francesco Cucca, Gonçalo R. Abecasis

Research output: Contribution to journal › Article › peer-review

Abstract

We report -1/417.6 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, -1/476,000 variants common in our sample (frequency >5%) are rare elsewhere (

Original language	English
Pages (from-to)	1272-1281
Number of pages	10
Journal	Nature Genetics
Volume	47
Issue number	11
DOIs	https://doi.org/10.1038/ng.3368
Publication status	Published - Nov 1 2015

ASJC Scopus subject areas

Genetics

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Sidore, C., Busonero, F., Maschio, A., Porcu, E., Naitza, S., Zoledziewska, M., Mulas, A., Pistis, G., Steri, M., Danjou, F., Kwong, A., Del Vecchyo, V. D. O., Chiang, C. W. K., Bragg-Gresham, J., Pitzalis, M., Nagaraja, R., Tarrier, B., Brennan, C., Uzzau, S., ... Abecasis, G. R. (2015). Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. Nature Genetics, 47(11), 1272-1281. https://doi.org/10.1038/ng.3368

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; 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, Chris; Lyons, Robert; Angius, Andrea; Kang, Hyun M.; Novembre, John; Sanna, Serena; Schlessinger, David; Cucca, Francesco; Abecasis, Gonçalo R.

In: Nature Genetics, Vol. 47, No. 11, 01.11.2015, p. 1272-1281.

Research output: Contribution to journal › Article › peer-review

Sidore, C, Busonero, F, Maschio, A, Porcu, E, Naitza, S, Zoledziewska, M, Mulas, A, Pistis, G, Steri, M, Danjou, F, Kwong, A, Del Vecchyo, VDO, Chiang, CWK, Bragg-Gresham, J, Pitzalis, M, Nagaraja, R, Tarrier, B, Brennan, C, Uzzau, S, Fuchsberger, C, Atzeni, R, Reinier, F, Berutti, R, Huang, J, Timpson, NJ, Toniolo, D, Gasparini, P, Malerba, G, Dedoussis, G, Zeggini, E, Soranzo, N, Jones, C, Lyons, R, Angius, A, Kang, HM, Novembre, J, Sanna, S, Schlessinger, D, Cucca, F & Abecasis, GR 2015, 'Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers', Nature Genetics, vol. 47, no. 11, pp. 1272-1281. https://doi.org/10.1038/ng.3368

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, 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. In: Nature Genetics. 2015 ; Vol. 47, No. 11. pp. 1272-1281.

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AU - Zoledziewska, Magdalena

AU - Mulas, Antonella

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AU - Steri, Maristella

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AU - Kwong, Alan

AU - Del Vecchyo, Vicente Diego Ortega

AU - Chiang, Charleston W K

AU - Bragg-Gresham, Jennifer

AU - Pitzalis, Maristella

AU - Nagaraja, Ramaiah

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AU - Fuchsberger, Christian

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AU - Reinier, Frederic

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AU - Malerba, Giovanni

AU - Dedoussis, George

AU - Zeggini, Eleftheria

AU - Soranzo, Nicole

AU - Jones, Chris

AU - Lyons, Robert

AU - Angius, Andrea

AU - Kang, Hyun M.

AU - Novembre, John

AU - Sanna, Serena

AU - Schlessinger, David

AU - Cucca, Francesco

AU - Abecasis, Gonçalo R.

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

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