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🆕Solve-RD publication by German Demidov @not_a_reptiloid & others: "Structural variant calling & clinical interpretation in 6224 unsolved #RareDisease exomes" published European Journal of Human Genetics. 🔗 rdcu.be/dJ6cU @SteveLaurie42 Manuela Morleo @Holmson69 Siddharth Banka Stephan Ossowski

#Undiagnosed hackathon at Radboudumc Welcome remarks from Alexander Hoischen and we are all looking forward to solving some undiagnosed and providing many families with answers!

So-well deserved!! 👨🏻‍🎓 Incredibly happy for you!! (And us 😉)

How day 1 started: * 42 unsolved patients How we are doing so far: * 5 new diagnoses * 4 leads for tomorrow Lessons from today: * new technology: indispensable * new knowledge: essential * collaboration: crucial #undiagnosedhackathon2024 Human Genetics Nijmegen, Radboudumc Wilhelm Foundation

Ready for day2! #undiagnosedhackathon2024 Radboudumc Human Genetics Nijmegen, Radboudumc Wilhelm Foundation

#undiagnosedhackathon2024 Day 2 video Together we can make a difference! Wilhelm Foundation youtu.be/5kLIDEB2eb4?si…

We’re so thankful for the 120+ people worldwide who participated in the #UndiagnosedHackathon2024. Wilhelm Foundation launched this event to help solve undiagnosed #RareDisease through collaboration & accelerated patient-centered problem-solving. More: undiagnosedhackathon.org

📢Excited to share our🆕publication “Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)” published TODAY in LabAnimal Springer Nature 🔗nature.com/articles/s4168… Thanks to all partners for successful #collaborations 👏

Today and tomorrow we celebrate the 75th anniversary of the Dutch society of Human Genetics! We’ll look back into the history of our society and discuss our future exciting research!

75jaar NVHG vandaag in Amsterdam en ook in de Podcast van @NTVG_actueel , met aandacht voor DTC genetische tests en ons ERUDIGIT onderzoek (Humane Genetica Amsterdam UMC ) Luister nu het interview via: open.spotify.com/episode/1hhWxW…

Annemieke Verkerk: A trip down memory lane: “Finding the gene for fragile X? Of course we can!”

The latest preprint from our team Human Genetics Nijmegen, Radboudumc. 93% HiFi genomes to test clinical utility for 100 cases with very difficult to detect pathogenic variants. Suggesting this could become the genetic first tier test in diagnostics: “one test fits all”: medrxiv.org/content/10.110…

Ready for the @pacbio party #ashg2024