NIG aims to define an Italian Reference Genome for the identification of:
- genes responsible for genetic diseases and susceptibility genes for complex diseases in both basic and translational researches,
- genetic variants responsible for interindividual differences in drug response in the Italian population, and useful for population and forensic purposes
- new targets for diagnosis and treatment of genetic diseases.
In collaboration with CINECA, NIG is creating a shared database (NIG Repository) containing data from nucleic acid sequencing of Italian subjects. The NIG Repository will only publish aggregate variant frequencies from a pool of data provided by the submitters.
The NIG Repository
All external parties have the opportunity to contribute ti the database with their own genomic data if they get through quality, quantitatice and regulatory requirements in order to ensure adequate uniformity and homogeneity levels.
The database enlargment is essential for making it richer and more accurate in estimating variant frequencies in the Italian population, in order to use it at best for functional predictions of the same variant.
