Canonical splice site variants: more than meets the eye
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.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease
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.
Exome CNV detection and classification in rare diseases
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.
Stakeholders’ Views on Returning Polygenic Risk Scores
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.
Enhanced genetic diagnosis through RNA-seq analysis of transdifferentiated cells
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.
Evaluating and improving health equity and fairness of polygenic scores
Dr. Tianyu Zhang from Carnegie Mellon University will discuss a new polygenic score framework and how it may benefit underrepresented populations..
Regulatory features aid interpretation of 3'UTR variants
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.
Tracing decision points in the use of race, ethnicity and genetic ancestry as population descriptors in genomics research
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.
CRISPR activation to study splice-altering variants
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.
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