Genomic history of the Sardinian population

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.  […]

Nature Genetics volume 50pages1426–1434 (2018



National Institute of Health  (USA)



Fondazione Italiana Sclerosi Multipla

Fondazione di Sardegna

Regione Autonoma della Sardegna

Sardegna Ricerche

Associazione Sindrome di Crisponi e Malattie Rare