Webinars

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.

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​.

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.

Dr. Rebecca Reimers will discuss genome-based newborn screening for severe, actionable, childhood genetic diseases in a NICU pilot study.

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.

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.

Hear from ASHG volunteers on how to navigate the Annual Meeting as a first-time attendee or trainee. We will cover a range of topics, from badge pick-up to networking opportunities and how to make the most of your experience. You will also have the opportunity to ask your questions during a Q&A period.

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.

This webinar will introduce attendees to the career-enhancing ASHG-NHGRI Genomics and Public Service Fellowship Program. Learn about the four different fellowship options, why they might be right for you, and how to make your application stand out. Hear from mentors and fellows about their experiences and get your questions answered!