24-4-2024

Variant interpretation and classification in cancer genes – Zipper model

Maria Haanpää is a clinical geneticist from Turku University Hospital, Finland. She is Finland’s National Coordinator of ERN Genturis. Her PhD and post doc research focused on cancer susceptibility syndromes.

This webinar will provide basic information of NGS sequencing variant interpretation model by the physician perspective. Here in Turku University Hospital the interpretation is done by clinical laboratory specialist in collaboration with clinical interpretation done by clinical geneticist. This is called “a zipper” model to achieve better diagnostic rate and less inconclusive findings.