Webinars

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.

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 webinar will introduce attendees to the career-enhancing ASHG-NHGRI Genomics and Public Service Fellowship Program. Learn about the four different fellowship options, why they might be right for you, and how to make your application stand out. Hear from mentors and fellows about their experiences and get your questions answered!

This webinar will introduce advocacy framed around U.S. policy-making, ASHG’s role in the biomedical research advocacy community, and why it is essential for scientists to take action.

In this webinar, Paul W. Hook, PhD, former leader of the Bioinformatics SIG, provides insight into his current work using cleavage under targets and release using nuclease (CUT&RUN) to measure protein-DNA binding with nanopore sequencing. Dr. Hook will introduce CUT&RUN, detail computational analysis while highlighting software used, present results, and explain how this method may be used in the future. A time for Q&A will follow the presentation.

Erin Thorpe Venti will present findings from an observational, retrospective analysis of 1,004 underserved individuals from 8 countries with suspected rare genetic disease who received clinical genome sequencing (cGS) through the iHope program, a philanthropic testing access program.

This webinar introduces innovative methods for integrating hands-on genomics into high school and college curricula, demonstrating how affordable DNA sequencing can facilitate equitable STEM access and data literacy.

Directors of four NIH funded projects that aim to train people from underrepresented groups in genomics and introduce them to future careers will present an overview of their program. Following this will be a panel discussion about opportunities and challenges in recruiting, training, and retaining a diverse and representative genomics community.

Dr. Gabrielle Lemire will discuss exome copy number variant (CNV) detection, analysis and classification on a cohort of 6,633 families with undiagnosed rare genetic disorders. With the resolution provided by exome sequencing, they identified a causative CNV in 2.6% of families and assessed CNV pathogenicity by applying an advanced classification approach.