Exome sequencing is the standard of care in clinical genetics. Generating data has become easy and affordable, but optimizing the analysis workflow and evaluating thousands of potentially clinically relevant variants can still be time-consuming and tedious. In this talk, we will present how this challenge of accelerating case review and increasing the diagnostic yield at the same time is tackled in a high-throughput academic diagnostic lab.

About a year from now, all provisions of IVDR Art 5(5) will come into force except for one. There have been a lot of discussions about what that means for genetic diagnostics labs. In January 2023, the Medical Device Coordination Group issued the guideline MDCG-2023-1 that clarifies important aspects. The bad news first: A QMS according to ISO 15189 will not be sufficient.

This talk gives an overview of the issues still present in the ‘new’ reference genome hg38. We discuss how these can be addressed from a bioinformatics perspective, and what this implies for clinical practice. Statistics from real-world migrations of large datasets highlight what kinds of problems to expect during the liftover, which tools can be helpful, and how much previously collected hg19 data can be preserved.