The DOI matches its Crossref record; 79 of the 79 references it cites were found in a registry or an index.
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers
Open accessAbstract
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 and 19 signals, including 2 new loci, for inflammatory markers. The new associations would have been missed in analyses based on 1000 Genomes Project data, underlining the advantages of large-scale sequencing in this founder population.
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Cites
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A global reference for human genetic variation
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Metadata
- Authors
- Sidore, C., Busonero, F., Maschio, A., Porcu, E., Naitza, S., Zoledziewska, M., Mulas, A., Pistis, G., Steri, M., Danjou, F., Kwong, A., Ortega del Vecchyo, V. D., Chiang, C. W. K., Bragg-Gresham, J., Pitzalis, M., Nagaraja, R., Tarrier, B., Brennan, C., Uzzau, S., Fuchsberger, C., Atzeni, R., Reinier, F., Berutti, R., Huang, J., Timpson, N. J., Toniolo, D., Gasparini, P., Malerba, G., Dedoussis, G., Zeggini, E., Soranzo, N., Jones, C., Lyons, R., Angius, A., Kang, H. M., Novembre, J., Sanna, S., Schlessinger, D., Cucca, F., & Abecasis, G. R.
- Venue
- Nature Genetics
- Published
- 2015-09-14
- Volume
- 47
- Issue
- 11
- Pages
- 1272-1281
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2170093293
- Cited by
- 377
- References
- 79
- FWCI
- 14.80
- Type
- journal article
- Language
- en
- Open access
- green
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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., Ortega del Vecchyo, V. D., 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. https://doi.org/10.1038/ng.3368
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