🔬 The Clinical NGS Data Interpretation Course is in full swing in Milan! A fully booked room, engaged participants, and hands-on WES/WGS variant interpretation. Looking forward to another packed day tomorrow! #NGS #Genomics #ESHG2025

Started the first day of our pre-ESHG meeting on clinical NGS variant interpretation with 60 participants from all over the world! #ESHG2025

Super happy that our paper phenotypes in carriers of pathogenic variants in recessive genes is finally out!! www.nature.com/articles/s41...

Now followed-up by my long-standing collaborator and friend; the wonderful @christiangilissen.bsky.social

Early flight for #agbtGM #agbt25 #agbt2025 with @christiangilissen.bsky.social. Looking forward to the 25th anniversary back on Marco Island. Let me know if you want to discuss long-read sequencing, optical genome mapping, and any type of omics for rare disease research and diagnostic!

For those interested in clinical variant interpretation from exomes and genomes: join us for the 3ed edition of our ESHG pre-conference course in NGS data interpretation!

And a nice press release about the recent Solve-RD work @erdera.bsky.social @radboudumc.bsky.social www.radboudumc.nl/en/news-item...

Have a look at our latest work on PacBio LRS showing its potential as a single technology to accurately identify all types of clinically relevant variants. www.sciencedirect.com/science/arti...