Webinars

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.

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.

Attendees will learn how to access HPRC data and resources. They will be able to conduct variant analyses using the pangenome and they will be able to utilize tools for mapping functional genomics data, such as RNAseq and DNA methylation data, to the pangenome.

This webinar will provide a typology of four novel service delivery models for genetics services and present real-world examples, providing attendees with an approach to analyzing and addressing the unmet need for genetics consultation in primary care at their own institutions.

Join us for a one hour introductory bioinformatics webinar to the GA4GH VRS standard, led by the specification maintainers.

This webinar series will describe responsible and meaningful community engagement approaches across the research lifecycle, in a manner that addresses health inequalities, avoids potential harms, builds trustworthy relationships, and increases the representation of underrepresented communities in genetics and genomics research.

Dr. Appelbaum will discuss findings from a series of focus groups with patients, clinicians, and IRB members on return of polygenic risk scores in research. Despite strong interest in such results, they found multiple barriers to their effective use to improve health.