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...
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.
nature.com
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!
European Society of Human Genetics@eshg.bsky.social · last yr.Pre-Conference Course Registration is Now Open! ✅ Clinical NGS Data Interpretation ✅ Professional Development: Interactive Approaches to Genetic Teaching ✅ Unleashing the Power of Large-Scale Genomic Public Databases 🔗 Secure your spot now! 👉 buff.ly/4k0YXx0 #eshg #Genetics #NGS #Genomics
And a nice press release about the recent Solve-RD work @erdera.bsky.social @radboudumc.bsky.social www.radboudumc.nl/en/news-item...
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
radboudumc.nl
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...
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…
sciencedirect.com