Reposted by Christian GilissenEuropean Society of Human Genetics @eshg.bsky.social · 22/05/2025🔬 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 0134
Christian Gilissen @christiangilissen.bsky.social · 22/05/2025Started the first day of our pre-ESHG meeting on clinical NGS variant interpretation with 60 participants from all over the world! #ESHG2025 042
Christian Gilissen @christiangilissen.bsky.social · 15/05/2025Super happy that our paper phenotypes in carriers of pathogenic variants in recessive genes is finally out!! www.nature.com/articles/s41...nature.comReproductive and cognitive phenotypes in carriers of recessive pathogenic variants - Nature Human BehaviourFridman, Khazeeva et al. show associations of reproductive phenotypes and educational attainment in heterozygotic carriers of pathogenic variants associated with recessive conditions. 073
Reposted by Christian GilissenAlex Hoischen @ahoischen.bsky.social · 05/05/2025Now followed-up by my long-standing collaborator and friend; the wonderful @christiangilissen.bsky.social 111
Reposted by Christian GilissenAlex Hoischen @ahoischen.bsky.social · 22/02/2025Early 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! 371
Christian Gilissen @christiangilissen.bsky.social · 20/02/2025For 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! 010
Reposted by Christian GilissenAlex Hoischen @ahoischen.bsky.social · 17/01/2025And a nice press release about the recent Solve-RD work @erdera.bsky.social @radboudumc.bsky.social www.radboudumc.nl/en/news-item...radboudumc.nlOver 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 1133
Christian Gilissen @christiangilissen.bsky.social · 13/01/2025Have 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...sciencedirect.comHiFi long-read genomes for difficult-to-detect, clinically relevant variantsClinical short-read exome and genome sequencing approaches have positively impacted diagnostic testing for rare diseases. Yet, technical limitations a… 1108
