Attendees will hear about the development of the service, learn to submit data to the service for imputation, and perform a down stream analysis calculating a polygenic risk score on data imputed with the service.

This workshop is suitable for all staff working in genomics, especially those working in the field of cytogenomics. The recently released International System for Cytogenomic Nomenclature (ISCN) 2024 will be presented with worked complex examples for participants and a Q&A session.

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.