Topic: Open Discussion Forum
September 16, 2026 at 10:00 AM ET on Zoom
10:00 AM - 11:00 AM ET – Open Discussion Forum
We’ll have an open discussion forum to discuss any work you’re doing or topics you’d like to discuss with the team. And we’ll have AnVIL and Terra support on call to answer any questions about AnVIL you might have!
What are AnVIL Demos?
AnVIL Demos are a monthly, virtual meeting where we highlight what you can do on the NHGRI Analysis, Visualization, and Informatics Lab-space (AnVIL; https://anvilproject.org/), a cloud-based computing platform for genomic data science! AnVIL Demos will start out with a 30-minute demonstration on the platform followed by open time for Q&A and user support.
The demos will highlight a range of topics, from a capability of the platform to a scientific analysis powered by AnVIL. If you’re interested in showcasing how you use AnVIL at a future AnVIL Demos session, reach out to Natalie Kucher (nkucher3 / at / jhu.edu). After the demo, we’ll open up the floor to answer questions about the demo and to answer any general questions you might have about AnVIL.
Watch past AnVIL Demos recordings from our YouTube playlist!
Resources
Upcoming Events
Sign up to hear about future AnVIL Demos and announcements at Info | anvil-mailing-list@lists.anvilproject.org - lists.anvilproject.org and learn about upcoming events at AnVIL Community Events - AnVIL Portal!
Q: In one of our projects, we’re using AnVIL to store and analyze our data to look for potentially clinically relevant variants and understanding their impact. We then cross-reference external resources like All of Us, ClinVar, OMIM, CADD, and genomAD to review if any of these variants have been previously identified and rank the highest possible disease causing variants. Currently this process is quite manual, referencing the different resources, and it would help to have better integration within AnVI for these queries.
A recent initiative creating a resource that would help in this project is CRISPI: Programs and Initiatives | NIH Office of Intramural Research. Are there any current collaborations with AnVIL or plans to offer integration?
A: Broad is helping CRISPI through AnVIL! The Broad team is collaborating with CRISPI staff and NIH Principal Investigators to:
- Ingest Intramural Research Program (IRP) data into AnVIL
- Prototype an AI-empowered variant search to find datasets through genomic prompts, in order to select relevant datasets to request access to
- Uncover the downstream reuse and clinical impact of the datasets they submit to AnVIL.
This work aims to enable the biomedical community to find relevant datasets in a manner that is compliant and powerful, then conduct analysis including found datasets on the AnVIL platform, and learn and stay updated on their work’s broader value after publishing.
Q: In our project, we’re interested in using the AnVIL and All of Us Imputation Service. Our project works with participants in a non-European population, and we want to impute only using the population that matches our participants. Is it possible to subset the reference panel to use only populations that match our study population?
A: The service does not support subsetting to specific subpopulations when running imputation. We generally expect that this shouldn’t cause any reduction in imputation accuracy, since the underlying imputation algorithms will match target samples to specifically the reference panel samples they are most genetically similar to in particular regions of the genome. If you have more questions about the imputation service, or could use help getting started with it, you can reach out directly to the team at (data-science-services-support@broadinstitute.org).
For more documentation, feature requests, and help you can see the service’s forum here: https://broadscientificservices.zendesk.com/hc/en-us.
You can also find more in the preprint for the All of Us + AnVIL Imputation Service, published just a couple of weeks ago: https://www.medrxiv.org/content/10.64898/2026.08.25.26361247v1
Sign up: Register for AnVIL Demos