Webinars

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.

Are you ready to network with the brightest minds shaping the future of your field? This webinar will provide a unique opportunity for a limited number of ASHG community members to connect with industry leaders, gain insights into cutting-edge advancements, and propel their career forward.

With the progression of genetic technologies, it is important to understand not only what technologies are available but also the range of results that they provide and how to interpret those results. From positive and negative results to secondary and novel findings, what information can these provide to patients and researchers/clinicians? Using anonymized clinical reports, the speakers will address this important next step in genetic technologies.

Dr. Tianyu Zhang from Carnegie Mellon University will discuss a new polygenic score framework and how it may benefit underrepresented populations..

Lindsay Romo, medical biochemical genetics fellow, will present on incorporating functional datasets to improve interpretation of 3'UTR variants, as well as a new software tool, RegVar, aimed at characterizing variants by their putative regulatory elements.

Sandra Soo-Jin Lee will discuss an empirical study of the use of population descriptors in precision medicine research and decision points in which investigators substitute and combine race and/or ethnicity and genetic ancestry.

This series of three educational webinars will highlight scientific and ethical, legal and social implications (ELSI) perspectives on why the appropriate and responsible use of population descriptors matters in genomics research.

This webinar will cover the role of genetic technologies, how they have advanced over the decades, and what more there is to learn and develop. The presentations will also address how technologies lead to new ways of conducting genetic research.

Thorkild Terkelsen, MD, will discuss the diagnostic application of CRISPR activation to study the functional effect of splice-altering variants in easily accessible cells from individuals.