
ASHG Journals
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Contains 1 Component(s) Includes a Live Web Event on 04/02/2025 at 12:00 PM (EDT)
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.
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Contains 1 Component(s)
Dr. Rebecca Reimers will discuss genome-based newborn screening for severe, actionable, childhood genetic diseases in a NICU pilot study.
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Contains 1 Component(s)
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.
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Contains 1 Component(s)
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.
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Contains 1 Component(s)
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.
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