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.

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.