Address
304 North Cardinal St.
Dorchester Center, MA 02124
Work Hours
Monday to Friday: 7AM - 7PM
Weekend: 10AM - 5PM
Alzheimer Genetics Hub
Identify rare high-impact variants that play a role in Alzheimer’s disease and other neurodegenerative diseases, to increase our understanding of disease etiology and improve clinical diagnosis/prognosis.
Cohort overview
Hub Design
Aim of the hub design is to provide a secure environment, while maintaining usability for users.
Analysis hub
The hub is a SLURM cluster, on which custom software and scripts can be executed. Users have full command line access.
Isolated environment
The cluster is isolated from the internet. Data transfers occur through a data transfer node, which logs transfer activity. This is transparent to the user.
Harmonized pipeline
Genetic data is processed by a harmonized state-of-the-art pipeline, before it is made available on the Analysis hub.
Tape storage
Raw data (petabyte-scale) is stored in an efficient lossless format on tape.
Data providers in control
Data providers decide who and for what purpose their data is being used.
Project environments
Users can collaborate through project environments with fine-grained permission structure.
Hub Acces Documents
Collaborators need to sign the Data Registry Agreement.
- Data providers in control
- No genetic data download
- Collaborative projects
- Scientific committee
- Meetings
- Publication procedures
Insights
Next to rare variants in the genes APP, PSEN1 and PSEN2, this collaboration has detailed and revealed rare variant signals that contribute to Alzheimer’s Disease in the genes SORL1, TREM2, ABCA7, ATP8B4 and ABCA1.
Suggestive signals have been found by this collaboration in ADAM10, RIN3, CLU, ZCWPW1 and ACE.
Samples analyzed
0
Genes confirmed
0
Suggestive signals
0
Studies contributed
0