The Sardinian Transcriptome Project The interpretation of GWAS is extremely challenging since most candidate loci fall in non-coding regions and are difficult to interpret. Given the important role of regulatory variation in shaping phenotypic complexity, expression Quantitative Trait Loci (eQTLs) have been proposed as informative intermediate phenotypes between genomic sequence variation and human [...]

The Sardinian Genome Project for medical and human evolution discovery Next generation sequencing has revolutionized the resolution of genetic analyses. Since 2010, the IRGB institute has exploited this advanced technology with a lowpass sequencing approach aiming at the genetic characterization of the Sardinian population. We sequenced about 3,500 whole genomes discovering more [...]