Ongoing Investigations

ADNI data is made available to researchers around the world. As such, there are many active research projects accessing and applying the shared ADNI data. To further encourage Alzheimer’s disease research collaboration, and to help prevent duplicate efforts, the list below shows the specific research focus of the active ADNI investigations. This information is requested annually as a requirement for data access.

Principal Investigator  
Principal Investigator's Name: Jessica Alfoldi
Institution: Broad Institute of MIT and Harvard
Department: Medical and Population Genetics Program
Country:
Proposed Analysis: Many of the core efforts of modern human genomics rely on the availability of large aggregated reference data sets of human genetic variation: for instance, analyses of the variants present in a patient suffering from a rare, severe disease typically rely on determining the frequency of those variants in large reference cohorts. Since October 2014, the Exome Aggregation Consortium (ExAC) has shared variant frequency data from over 60,000 exomes from other large sequencing projects. In October 2016, we expanded this project into the Genome Aggregation Database (gnomAD) through the inclusion of data from over 120,000 exomes and over 10,000 whole genomes, including data from multiple dbGaP projects. We wish to include the ADNI WGS data in the next release of gnomAD, scheduled for late 2017. After joint variant calling across all of these projects, we will make publicly available the deidentified, aggregate list of variants and their population allele and genotype frequencies, along with gene-level summary statistics such as the overall load of rare loss-of-function variants in each protein-coding gene, following the same model used by ExAC since 2014. The data will not be used to investigate individual participant identity, study perceptions of racial/ethnic identity, individual participant genotypes, or explore issues such as non-maternity and non-paternity. No individually identifiable private information about human subjects will be available for internal or external researchers. We will share our findings through the release of aggregated data through a custom browser and publications in PubMedCentral-accessible journals. We anticipate that this resource will substantially improve approaches to the identification of severe pathogenic variants across a wide range of human diseases.
Additional Investigators