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.

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.

Virtual Symposium presenting cutting-edge research in Cancer Genetics

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.