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.

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.

Pengfei Liu will present on a novel workflow for rare disease diagnostics using RNA-seq. The workflow leverages patient cell transdifferentiation into induced neurons to improve molecular diagnostic yield of neurological genetic disorders.

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.