There are many active research projects accessing and applying shared ADNI data. Use the search above to find specific research focuses on the active ADNI investigations. This information is requested annually as a requirement for data access.
| Principal Investigator | |
| Principal Investigator's Name: | Francesco Musacchia |
| Institution: | Istituto Italiano di Tecnologia |
| Department: | Center for Human Technologies |
| Country: | |
| Proposed Analysis: | We would like to download WGS data and specifically BAM and VCF for individuals with diagnosis of AD to identify new candidate genes involved with a potential risk to develop the disease. To this aim, we will compare common and rare LoF/missense SNVs in affected patients against healthy controls to identify specific risk genes. Additionally, we are interested in the identification of structural variants (both CNVs and MEIs) in genes involved with brain diseases. Thus we will execute tools such as Illumina Manta and Melt and visually inspect such kind of variation by filtering out common SVs found in projects such as GnomAD and dbGAP. The obtained results will be verified if they are statistically significant to describe a group of genes involved with AD whose disruption is a likely risk factor. |
| Additional Investigators |
