Non-coding Variants Disrupt GATA4 Regulatory Functions
José A. Rodríguez-Martínez, Associate Professor at the University of Puerto Rico, will discuss their recent work on using computational models to identify cardiovascular disease-associated single-nucleotide polymorphisms (SNPs) that alter the DNA binding of the human cardiac transcription factor GATA4, and validated these findings through in vitro and cellular experiments.
Genome-based newborn screening for severe, actionable, childhood genetic diseases in a NICU pilot study
Dr. Rebecca Reimers will discuss genome-based newborn screening for severe, actionable, childhood genetic diseases in a NICU pilot study.
Developing Polygenic Scores for Multi-Ancestry Populations
Dr. Gunn will discuss findings from a study leveraging data from Million Veterans Program and All of Us Research Program to compare methods for building polygenic scores (PGS) for multi-ancestry populations across multiple traits.
Overview of the PRIMED Consortium: Reducing disparities in polygenic risk assessment
Co-first authors Drs. Kullo and Nelson will present an introduction and overview of the NIH-funded PRIMED Consortium, which is working to improve polygenic risk prediction of a range of health outcomes across diverse, global populations. The presentation will cover design and rationale, organization and progress of Consortium activities, methodological innovations, and initial Consortium findings and products.
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.
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