#Clinvar charts, die neue Spielzeit bringt ordentlich Bewegung in die Tabelle. Mit deutlicher submission Differenz zur letzten Saison machen sich TU München und UKSH bemerkbar. Würzburg, Aachen und Heidelberg spielen sich mit starken Leistungen auf höhere Tabellenplätze.
Kann das noch 1. Liga sein? Oder schauen mittlerweile alle #HGQN: Mehr Mannschaften, heissere Zweikämpfe. Leipzig liefert sich battle mit Tübingen um die richtige Einstufung von AMPD1 Variante. Was sagt der Schiri?
In the scientific drawing session, we refined the ReNU sketch by removing the ptosis, reshaping the face into a more egg-like contour to suggest microcephaly, adding an esotropia and working out the distinctive appearance of the mouth. What do you think?
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!
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! 👋
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!
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
#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!
@RareGenomicsRSA >50% diagnosis!
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!
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/
Congrats on your first paper, Aron Kirchhoff! And thanks to all the #GestaltMatcher users that participated in the quiz! Please DM if you are interested in a photorealistic synthetic portrait of a certain syndrome! nature.com/articles/s41431-0…
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!
Oh mein Gott war das gerade heißer Scheiss aus Frankreich den Alban Lermine auf der #agd2024 vorgestellt hat! This is really how it’s gotta be done. Merde. Warum kopieren wir das nicht einfach für das MVGenomSeq?