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.

Hear from ASHG volunteers on how to navigate the Annual Meeting as a first-time attendee or trainee. We will cover a range of topics, from badge pick-up to networking opportunities and how to make the most of your experience. You will also have the opportunity to ask your questions during a Q&A period.

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!

Dr. Costain will discuss findings from systematically assessing rare canonical splice site variants in blood expressed genes in a cohort of individuals who underwent genome sequencing and RNA-seq. The team found that up to 1 in 4 variants may not cause loss-of-function, and that in silico predictions using established tools and published guidelines were often discordant with RNA-seq data.

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.