📢 Only a few days left for early bird registration to the #BC2Conference! ⏳ Don't miss out on the discounted rates and secure your spot now! 🎉 Register before 30 June! 🌐 #Bioinformatics #Conference

On behalf of Alexander Hoischen, Alexandre Reymond and ESHGdesign: #eshg2024 has a program :)

Maarja Jõeloo Marie Sadler Nicolò Tesio Sven Erik Ojavee Reedik Mägi Alexandre Reymond Zoltán Kutalik UK Biobank Estonian Biobank Faculté de biologie et de médecine (inactif) Dept of Computational Biology, Uni Lausanne @cig_unil

🚀 Exciting news !! 📢 Thrilled to share that our latest work on AFF3, discovering the distinct impact of gene variants on the transcriptome profile, is now available on 🎊medRxiv!🧬 Check it out medrxiv.org/content/10.110… Université de Lausanne #genetics #transcriptome #KINSSHIP

Don't worry, There is still time!

Very grateful to Samuel Moix for running the MR analyses and Zoltán Kutalik and Alexandre Reymond for the supervision! Dept of Computational Biology, Uni Lausanne @cig_unil Ecole doctorale FBM - Doctoral School FBM - UNIL

We are so excited to start exploring #longread sequencing of 10,000 Estonian genomes with PacBio 🧬improved genotype imputation reference panel 🧬more precise #pharmacogenetics 🧬actionable genetic findings for #personalizedmedicine Estonian Biobank pacb.com/press_releases…

Case Submission for the Dysmorphology workshops #eshg2024 until April 10! Cases of distinctive/rare dysmorphic patterns, from low/middle income countries, with prior #GestaltMatcher analysis or of significant academic/educational value will be prioritized! 2024.eshg.org/programme-at-a…

We learnt so many lessons during the journey leading to this manuscript. Spearheaded by super-talented (and hard-working) Marie Sadler

Bassani and coll. analyse the broad spectrum of pathophysiological effects of AFF3 variants, showing that distinct neurodevelopmental phenotypes result from variant-specific transcriptional effects Alexandre Reymond Read the paper on Genome Medicine: genomemedicine.biomedcentral.com/articles/10.11…

Well done, Chiara Auwerx , super proud of you…for the past 4 years, for the defence! You set the bar very high for future students! 😉

And now the English press release: radboudumc.nl/en/news-items/…

Shortly after the amazing #eshg2024 in Berlin - on my way to Vienna - to meet with our great team of experts in the SPC of European Society of Human Genetics (ESHG) eshg_young. Goal is to create another wonderful program for #eshg2025 in Milan.

It has been a while since #eshg2024 in Berlin. Still, we would like to acknowledge European Society of Human Genetics (ESHG) for supporting us to represent the young human #genetics generation! Thank you all who met us & joined our activities! We are looking forward to #eshg2025 in Milan 🧬

Easily the most brilliant and dramatic #raredisese #collaboration I’ve been part of 🤩 Fantastic to see it out in nature today!!!! 👏👏👏 Heaps more diagnoses made already Daniel MacArthur @SimonsCas

I was asked by NatureStructMolBiol to write a commentary on the future of structural biology which I am unsure about. I wrote about collaborative research instead. It is not open access but it can be read via this link rdcu.be/dNOLS

Great memories on Jim’s fantastic lecture at #eshg2024 - a true giant in our field - with a so well deserved recognition for him and his team and collaborators LupskiLab! Well done Prof!

Already now a stellar program! Thanks to an amazing SPC Alexandre Reymond!

We did it again!! SPC just completed the program for #ESHG2025 - it will be a wondrous one! Selecting the few which made it to the stage has been really hard. Join us in Milan or online (exceptionally low fees) 4 days of great science and networking opportunities! European Society of Human Genetics (ESHG)

Thrilled to receive the Early Career Award for my presentation at #ESHG2025! 🧬 Big thanks to all the amazing collaborators on this project — couldn't have done it without you. Grateful to the organizers and inspired by the science shared this week!