Emerging Laboratory Technologies SIG Seminar
In this seminar, Ali Crawford, PhD will present on Constellation mapped reads, a novel on flow cell whole genome assay.
Low-cost generation of clinical-grade, layperson-friendly pharmacogenetic passports
Pauline Lanting, PharmD, will discuss the feasibility of a low-cost, pre-emptive pharmacogenetic passport that could be readily implemented in clinical settings to ensure patients receive optimal drug therapy based on their genetic makeup.
Cancer predisposition variants in All of Us
Adam Bates will discuss results from leveraging the All of Us Research Program to study previously identified pathogenic germline variants and their relationship to cancer occurrence. This work highlights the importance of using diverse study populations to make cancer research more broadly applicable.
Influence of rare variants on autism prevalence
Mahmoud Koko, MBBS, Dr rer nat, will discuss findings from a meta-analysis of two large autism cohorts investigating the extent to which damaging coding variants influence a person's chances of having an autism diagnosis, and whether this influence varies by sex.
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.
Phenotypes & Genotypes SIG Seminar
In this seminar, Nara Sobreira, PhD, MD will present tools (PhenoDB, GeneMatcher, and VariantMatcher) used to prioritize causative variants in the analysis of coding and non-coding variants when analyzing genomic data.
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.
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