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.