Webinars

Drs. Sharma and Wojcik will present recently published work investigating the role of both genetic ancestry and sociocultural factors when considering the genetic risk for body-mass-index (BMI) in the Hispanic Community Health Study/Study of Latinos. Significant gene-environment interactions persisted in only some subgroups of Hispanic/Latino ethnicity, even after adjustment for ancestry differences, emphasizing the importance of finer-level population descriptors in avoiding spurious findings of gene-environment interactions due to both genetic and sociocultural substructure.

In this CoLab, Ali Crawford, PhD will present on Constellation mapped reads, a novel on flow cell whole genome assay.

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.

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.

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.