A web database of the Italian genetic variability
Believing in the utility of large population-specific databases, especially for a complex population like the Italian one, the Network for Italian Genomes (NIG) provides variant frequencies as a free tool for both clinicians and researchers.
Four datasets are currently available for direct searches (4212 exomes and 380 genomes):
- 1492 Italian clinical cases and trios affected by different diseases (NIG);
- 1686 Italian healthy controls, with well-characterized ancestry in the four Italian macro-areas: North, Center, South and Sardinia (NIG-ExIT);
- 1034 Italian SARS-CoV-2 PCR positive individuals (1013 unrelated), from very severe (intubated) to asymptomatic cases (NIG-COVID);
- 385 Italian individuals with Whole Genome Sequencing from the Orchestra Project (NIG-WGS).
Network for Italian Genomes
NIG - Exomes from ITaly
NIG-ExIT
- 1686 unrelated Italian individuals
- Healthy controls
- Whole-Exome Sequencing
- Well-characterized ancestry
- hg19
- DOI: 10.1002/humu.24156
NIG-COVID-19 exomes
GEN-COVID
- 1034 Italian SARS-CoV-2 positive individuals (1013 unrelated)
- From very severe (intubated) to asymptomatic
- hg19
- DOI: 10.1101/2020.07.24.20161307
NIG Whole Genome Sequencing
NIG WGS
- 385 Italian unrelated individuals
- Whole Genome Sequencing
- 46 668 759 variants
- hg38
- from Project Orchestra