Journal
NATURE GENETICS
Volume 50, Issue 10, Pages 1426-+Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/s41588-018-0215-8
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Funding
- National Institutes of Health (NIH)
- National Human Genome Research Institute grants [HG005581, HG005552, HG006513, HG007022, HG007089]
- National Heart, Lung, and Blood Institute grant [HL117626]
- National Institute of General Medical Sciences grant [GM108805, F32GM106656, T32GM007197]
- National Institute of Neurological Disorders and Stroke grant [T32NS048004]
- Intramural Research Program of the NIH, National Institute on Aging [N01-AG-1-2109, HHSN271201100005C]
- National Science Foundation fellowship [DGE-1746045]
- Sardinian Autonomous Region [7/2009]
- InterOmics MIUR Flagship Project [cRP3-154, PB05]
- FaReBio2011 (Farmaci e Reti Biotecnologiche di Qualita)
- NATIONAL HEART, LUNG, AND BLOOD INSTITUTE [U01HL117626, R01HL117626] Funding Source: NIH RePORTER
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [RC2HG005552, R01HG007022, U01HG006513, R01HG007089, RC2HG005581] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [F32GM106656, R01GM108805, T32GM007197] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [T32NS048004] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON AGING [ZIAAG000675] Funding Source: NIH RePORTER
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The population of the Mediterranean island of Sardinia has made important contributions to genome-wide association studies of complex disease traits and, based on ancient DNA studies of mainland Europe, Sardinia is hypothesized to be a unique refuge for early Neolithic ancestry. To provide new insights on the genetic history of this flagship population, we analyzed 3,514 whole-genome sequenced individuals from Sardinia. Sardinian samples show elevated levels of shared ancestry with Basque individuals, especially samples from the more historically isolated regions of Sardinia. Our analysis also uniquely illuminates how levels of genetic similarity with mainland ancient DNA samples varies subtly across the island. Together, our results indicate that within-island substructure and sex-biased processes have substantially impacted the genetic history of Sardinia. These results give new insight into the demography of ancestral Sardinians and help further the understanding of sharing of disease risk alleles between Sardinia and mainland populations.
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