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.

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