NIG: Network for Italian Genomes

Network for Italian Genomes is a platform that supports genomic and genetic research by creating a reference Italian genome based on metadata analysis. Genetic data and phenotypic datasets have been collected for 18173 Italian individuals through the collaboration between NIG and major Italian universities as well as hospital institutions (Ospedale Pediatrico Bambino Gesù, Ospedale San Raffaele, ASST Ospedale Papa Giovanni XXIII, Università degli Studi di Bologna, Università della Campania “Luigi Vanvitelli”, Università degli Studi di Pavia, Università degli Studi di Siena, Università degli Studi di Torino, Università degli Studi di Tor Vergata, Università degli Studi di Trieste). In order to enable computational resources for genome sequencing analysis produced by the collaborators, NIG employs the CINECA infrastructure. The metadata analysis conducted by each centre will provide a characterization of sequence variants in Italian individuals (differentiated through Principal Component Analysis) and stratified by sex and age. Variant calling will be performed using the CINECA joint call pipeline. The main objective is to define an Italian reference genome with the aim of: i) identifying genes responsible for genetic diseases and susceptibility genes for complex diseases, both in basic and translational research; ii) identifying genetic variants responsible for inter-individual differences in drug response, useful for demographic and forensic purposes; iii) defining new targets for the diagnosis and treatment of genetic diseases. To join NIG project and become a collaborator of the platform, is possible to compile the online form available at https://www.nig.cineca.it, providing information about the institution and the number of exomes and/or genomes available for upload, to which a response will be given within a week. The purpose of a centralized repository is to coordinate data storage on a single platform, to improve access for the biomedical community, while ensuring data privacy and confidentiality.