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Working from home? Check out new genetics data for Alzheimer’s disease research!

Marilyn Miller
Marilyn MILLER,
Program Director,
Division of Neuroscience (DN)
.

The coronavirus has the research community adjusting on the fly to keep our science moving until we can safely return to our labs. One of the cool things about genetics research (beyond the excellent new Ken Burns documentary) is that the big, beautiful data that drives the Alzheimer’s disease and related dementias (AD/ADRD) research field can be accessed and studied remotely. So now’s a great time to announce the release of the latest genomics data set from the Alzheimer’s Disease Sequencing Project (ADSP).

It’s been a while since I first blogged about the NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS), and it has been growing strong ever since. Hosted by the University of Pennsylvania, NIAGADS is the data coordinating center for the ADSP and a key national repository for the field. It is a vital tool as we seek to better understand genes that increase risk for — or protection from — AD/ADRD, and ultimately to unveil potential new therapies to help prevent or delay the disease.

The ADSP was inaugurated in 2012 to study the genetic architecture of AD/ADRD using next-generation sequencing technologies to identify rare variants in large populations. The ADSP is helping researchers identify new genomic variants that increase risk for late-onset Alzheimer’s disease and better understand why some people with known risk factor gene variants do not develop AD. Through large, diverse studies and participant populations, the ADSP also helps sequence data to extend previous discoveries that could illuminate new pathways to therapeutic targets. 

So what’s new?

Through the NIAGADS Data Sharing Service (DSS) website, researchers can now access robust sequencing data of the protein-coding regions (exomes) of 19,922 samples from 9 different studies with multi-ethnic data sets. To access data, qualified investigators can submit Data Access Requests by following the instructions. The DSS site also includes a list of contributing cohorts and a breakdown of the subjects by condition and population background.

Additional genomic data down the road

But that’s not all: Stay tuned for even more genetics action to come! NIA supports additional projects through the ADSP Follow Up Sequencing Program. Project researchers will contribute DNA and phenotypes to ADSP for additional whole-genome sequencing. The next major data release — consisting of around 17,000 complete genomes (including the 4,789 genomes that were released in 2018) — should be available at NIAGADS DSS toward the end of the year. If you have questions on accessing and using this wealth of new data, please comment below.

Comments

Submitted by Robert Vassar on August 02, 2020

According to your blog that ADSP has nearly 20K whole exome sequences, but that whole genome sequences are not currently available. However, ADSP is planning to release ~17K whole genome sequences around the end of the year. My question is, how can I obtain access to whole genome sequence data right now? Thank you

Thank you for your interest in the ADSP data. There were 4,789 genomes that were publicly released in 2018 and are available for immediate access with an approved application. More information about the available data can be found on the ADSP Umbrella (ng00067) dataset page. We anticipate releasing an additional ~13,000 genomes (totaling ~17,000) in late 2020.

These data are currently undergoing QA/QC procedures before we can make them available to outside investigators. You can find more information on how to apply for data access at the NIAGADS Data Sharing Service (DSS) website.  Please reach out to the NIAGADS group (niagads@pennmedicine.upenn.edu) if you have any additional questions about the data.

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