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Thanks to the impressive work of Yuyang Chen, Nicky Whiffin & their preprint, we could diagnose a girl with the RNU4‐2 neurodevelopmental disorder. Facial gestalt recognizable! Even without WGS access, consider targeted analysis for unsolved patients? onlinelibrary.wiley.com/doi/full/10.11…

All of the #RNU4_2 cases are of EUR descent. Who will be the first to increase diversity? Shahida Moosa #StopTheGenocide? Brian Hon-Yin Chung? We will offer free Sanger sequencing for any case that achieves a #GestaltMatcher score above with a PPV>0.9! medrxiv.org/content/10.110…

MVGenomSeq is still operating in stealth mode with respect to data sharing. The best indicator for "heilen durch teilen" are still the #ClinVar submissions. Düsseldorf and Hannover climbed up a few ranks. Congrats!!

How would you feel about someone trying to register 7. Oct. as a trademark (TM)?

The keynote by Andreas Till (BfArM) is currently taking place at the Joint Annual Meeting of the Association for Gene Diagnostics (AGD) and the NGS-CN! 🧬 Afterwards, we look forward to the second edition of the Alleles & Allies board game night! 🎲🃏 #AGD2024

gnomAD calling. Is anyone in Germany picking up the phone? Thanks for making us aware, Fabian Brand!

Looks like a magician‘s desk. Will you perform some new tricks?

Yes, we can! Aron Kirchhoff conditioned a generative adversarial network (GAN) on the 20 most frequent disorders that are represented in the #GestaltMatcher database (GMDB). A picture is worth more than a thousand words. Thus, contact us, if you need an image for your gene!

We roughly need portrait images of 60+ original individuals that are unrelated but share the same molecular diagnosis to condition GestaltGAN. Reach out to us, if you want us to add the disorder of your interest to thispatientdoesnotexist.org

First ClinVar charts for 2025 of the Deps. of Med Genet at German university hospitals. A lot has happened! What's going on in Regensburg - new runner-up?! Heidelberg also seems to have finally been unleashed. Hannover is attacking Berlin and Bonn is venturing into the top half!

#IPNA2025 Update on Inherited Diseases: Awesome speakers this morning. I gave a quick rundown on which children to test! Paeds Nephro is really using genomics to benefit our patients! Time for #Africa to adopt #genomics in kids kidney care! RareDiseaseGenomicsRSA >50% diagnosis!

It’s tomorrow! Last day to submit your case for presentation in one of the Dysmorphology Workshops scheduled on Sat, May 24, 08:30 and Mon, May 26, 08:30 during the #ESHG2025 conference. Check the details and submit now: buff.ly/4bc5UqT

The chance to present a case in the dysmorphology workshop are much higher than in the concurrent scientific sessions (which is 6%) and the feedback you will receive is at least as valuable. Because usually 400+ people discuss vividly. Deadline extended!

Spotted at #GfH 2025! 🔎 Our team is at booth 29 (LIFE & BRAIN), ready to talk about all things GestaltMatcher. If you're at the conference, come say hi! 👋

How does GestaltMatcher Database make RARE data FAIR? 🔍📊 By making it ✨ Findable, Accessible, Interoperable and Reusable ✨! #FAIRdata #RareDisease #DataEthics #OpenScience

Exciting ClinVar Charts for 2025 Q1: in total >1k new submissions. Köln zieht an Erlangen vorbei. Hannover deklassiert Berlin. Düsseldorf überholt knapp Aachen. Und auch am Tabellen Ende tut sich was mit zwei Neulingen aus Ulm und Greifswald!