The ChileGenomico Project was funded by FONDEF (D10I1007) from 2012-2015 to characterize the genetic composition of the Chilean population with the objective to create a foundation for clinical research, public health and forensic medicine in the genomic era.

The Project employed next generation sequencing of whole genomes and microarray genotyping for selecting a panel of 150 Ancestry Informative Markers (AIMs), which was typed in 3000 Chileans recruited in seven sampling points along the country. This work resulted in a Report on the Ancestry of Chileans for the Ministry of Health, an interactive website of genetic ancestry of Chileans by region, a database with over 4 million of genetic polymorphisms segregating in the Chilean population.

Our study showed that, in average, Chileans have 51±0.3, 4±0.1, 20±0.3, 24±0.2 percent of European, African, Aimara, and Mapuche ancestry respectively. However, these values vary greatly across geographic regions and social strata. In addition, we established that the genetic divergence between Aimara and Mapuche genomes is larger than what has been detected among populations within Europe. The panel of AIMs generated by the project is the first one to distinguish between Aimara and Mapuche ancestry.

Please visit our outreach website for more information (in Spanish).