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.

A discussion of, "De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features"

A discussion of, "Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia"

A discussion of, "MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric"