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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.
Towards Health Equity: Prioritizing Community Partnerships in Human Genetics Research
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.
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.
A Guide to Understanding Genetic Technology Results
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.
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.
Webinar Series: Navigating the Use of Population Descriptors in Human Genetics and Genomics Research
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.