Putting CNVs in the Spotlight – Our ESHG 2026 Recap
June marked another outstanding edition of the European Human Genetics Conference. The MRC Holland delegation travelled to Gothenburg (Sweden), where we got up to speed with the latest developments in human genetics, reconnected with our valued customer and sales partner networks, and introduced digitalMLPA to an even wider audience. Our valuable discussions with many of our customers at ESHG confirmed what we have long known: that regular NGS pipelines often fail to deliver clear results when it comes to CNVs, whether that has to do with aberrations being missed or difficulties in resolving results in highly homologous regions. This is exactly where digitalMLPA comes into play. Leveraging our decades of experience pioneering the CNV detection space, MRC Holland develops assays that bridge these gaps and can provenly:
- Increase the detection of CNVs that would otherwise have gone missing, as was reported about our NXtec Hereditary Cancer Panels (see this news article).
- Distinguish between genes and their pseudogenes, as demonstrated by our digitalMLPA assay for carrier status analysis, NXtec D028 Carrier Panel 1, whose targets include genes in highly homologous regions that are often included in carrier testing (see this news article for more information).
Scientific Posters on Pharmacogenomics and Cardiac Disorders
We also had the pleasure of engaging in many insightful discussions during the poster sessions, where we showcased our in-development assays on pharmacogenomics and cardiac disorders. Click on the buttons below to view the posters.