
Lisenka Vissers
@lisenkavissers
Translating genomics to clinical practice for Rare Diseases. All patients with a rare genetic disease deserve a molecular diagnosis! Let’s find those!
ID: 113271362
11-02-2010 07:05:29
158 Tweet
422 Followers
295 Following

🆕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!



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






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…
