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Future Directions of the NHGRI Analysis, Visualization, and Informatics Lab-space (AnVIL)

Event Details

This workshop aims to identify gaps, challenges and future opportunities related to NHGRI’s investments in the AnVIL’s cloud-based infrastructure, tools and services. The workshop will include discussions on the current status of the infrastructure, tools and services provided by AnVIL to serve both the basic and clinical genomics research communities. These discussions will also help NHGRI identify activities needed to expand, diversify and support the AnVIL user community.

The agenda includes four breakout rooms divided into two sessions:

1)  Data submission and consortia engagement
2)  Analysis tools
3)  Infrastructure
4)  Outreach and training

Cross-cutting themes explored in each breakout room include:

1)  How cloud based platforms can better serve the needs of genomic researchers
2)  What tools and services can better support clinical genomic researchers
3)  How to improve interoperability with other cloud-based resources

All times in the agenda below are in Eastern.

Recorded Video


12:00 - 12:10 p.m. Welcome and Purpose of the Workshop PDF Icon
Valentina Di Francesco, M.S. (NHGRI)
12:10 - 12:20 p.m. Data Science at the Forefront of Enhancing Diversity in Genomics PDF Icon
Vence L. Bonham Jr., J.D. (NHGRI)
12:20 - 12:35 p.m. Introduction to AnVIL PDF Icon
Anthony Philippakis, M.D., Ph.D. (Broad Institute) and Michael Schatz, Ph.D. (Johns Hopkins University)
Session 1: Concurrent Breakout Rooms
  Data Submission and Consortia Engagement 
Moderators: Adam Resnick, Ph.D. (Children’s Hospital of Philadelphia) and Valentina Di Francesco, M.S. (NHGRI)
Analysis Tools 
Moderators: Marylyn D. Ritchie, Ph.D. (University of Pennsylvania) and Ken L. Wiley Jr., Ph.D. (NHGRI)
12:35 - 12:40 p.m. Moderator Introductions Moderator Introductions
12:40 - 12:55 p.m. AnVIL Presentation PDF Icon
Brian O’Connor, Ph.D. (Broad Institute) and 
Frederick Tan, Ph.D. (Carnegie)
AnVIL Presentation PDF Icon
Vincent Carey, Ph.D. (Harvard Medical School) and Anne O’Donnell-Luria, M.D., Ph.D. (Broad Institute)
12:55 - 1:40 p.m. Discussion  Discussion
1:40 - 1:50 p.m. Prepare Breakout Report Prepare Breakout Report
1:50 - 2:15 p.m. Reports Back From Session 1
Rapporteurs: Adam Resnick, Ph.D. and Marylyn D. Ritchie, Ph.D.
2:15 - 2:30 p.m. 15-Minute Break
Session 2: Concurrent Breakout Rooms
Moderators: Karen M. Davis, M.S. (RTI International) and Carolyn M. Hutter, Ph.D. (NHGRI)
Outreach and Training 
Moderators:  Siddharth Pratap, Ph.D. (Meharry Medical College) and Christopher Wellington, B.S. (NHGRI)
2:30 - 2:35 p.m. Moderator Introductions Moderator Introductions
2:35 - 2:50 p.m. AnVIL Presentation PDF Icon
Jeremy Goecks, Ph.D. (Oregon Health and Science University) and Benedict Paten, Ph.D. (University of California, Santa Cruz)
AnVIL Presentation PDF Icon
Jeffrey Leek, Ph.D. (Johns Hopkins University) and Tiffany Miller, B.S. (Broad Institute)
2:50 - 3:35 p.m. Discussion Discussion
3:35 - 3:45 p.m. Prepare Breakout Report Prepare Breakout Report
3:45 - 4:10 p.m. Reports Back From Session 2
Rapporteurs: Karen M. Davis, M.S. and Siddharth Pratap, Ph.D.
4:10 - 5:00 p.m. Summary and Closing PDF Icon
Ken L. Wiley Jr., Ph.D. (NHGRI)

PDF Icon  All slides are in PDF format

About AnVIL

The NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL) is a secure, cloud-based environment where researchers can store, share and analyze key unrestricted- and controlled-access genomic datasets and associated phenotypic data or metadata, particularly those generated with NHGRI funding or support. Since 2018, NHGRI has funded and managed AnVIL through two cooperative agreements awarded to the Broad Institute and Johns Hopkins University. 

Relevant Links:

Organizing Committee

Valentina Di Francesco, M.S.
  • Director
  • Office of Genomic Data Science
Carolyn M. Hutter, Ph.D.
Carolyn M. Hutter, Ph.D.
  • Director
  • Division of Genome Sciences
Ana Stevens
Ana Stevens
  • Scientific Program Anaylst
  • Division of Genomic Medicine

Last updated: January 13, 2022