Workshops

This session will provide an interactive, guided demonstration of the public facing genomic tools, including the new PheWAS x GWAS data browser as well as an interactive, guided demonstration of our cloud computing platform, the Researcher Workbench. It will also provide participants a hands-on opportunity to replicate a research study with new genomic data types including structural variant and long reads data. Instructors will conduct an interactive Q&A session to engage attendees about the All of Us Researcher Workbench and the novel technology implemented to conduct genomic analyses.

This workshop is for those passionate about human genetics who want to meaningfully impact the field through advocacy. You will gain foundational and practical skills to become an advocate, building on ASHG's ongoing efforts and highlighting available advocacy tools to the broader research community. This session is your invitation to step into the world of advocacy, armed with newfound knowledge and practical skills. Don't miss the chance to unlock your advocacy potential. No prior advocacy experience required!

This workshop will use the ACMG/AMP standards and guidelines for germline SNV interpretation as a case study for developing classroom activities that engage learners, develop variant analysis skills, and build confidence in the curation process for students. Throughout the workshop, participants will gain hands-on experience designing instructional activities for clinical genetics concepts, assessing the effectiveness of the activities, and constructing an instructional scaffold to guide learners to mastery of the curation process. Participants will also discuss the benefits of teaching in a team-based, active modality.

Dr. Julie R. Coleman, Dr. Shamika Ketkar, and Dr. Jinyoung Byun of the All of Us Evenings with Genetics (AoUEwG) Research Program at Baylor College of Medicine will provide training on the platform and tools to access and analyze the NIH’s All of Us data.

Stephen Mosher, Elena Ghanaim, Ava Hoffman, Anton Kovalsky and Fred Tan will discuss the new data management and sharing (DMS) policy released by the National Institutes of Health. In this workshop, attendees will learn about key data-sharing practices and take a journey through the Terra and AnVIL ecosystem to explore the features that meet NIH’s desirable characteristics.

Participants will gain an understanding of the new cytogenomic mapping nomenclature and see how it compare to array and sequence ISCN nomenclature.