🔬 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

Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants - Nature Human Behaviour Fridman, Khazeeva et al. show associations of reproductive phenotypes and educational attainment in heterozygotic carriers of pathogenic variants associated with recessive conditions.

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!

Over 500 patients receive diagnosis through genetic reanalysis - European consortium for Solving the Unsolved Rare Diseases demonstrates the significance of international collaboration to address the ... 17 January 2025

And a nice press release about the recent Solve-RD work
@erdera.bsky.social @radboudumc.bsky.social

www.radboudumc.nl/en/news-item...

HiFi long-read genomes for difficult-to-detect, clinically relevant variants Clinical short-read exome and genome sequencing approaches have positively impacted diagnostic testing for rare diseases. Yet, technical limitations a…

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...