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…

1/ 🧵🧬🔍 3-6% of the global population has a rare disease, with 72% of these cases having a genetic cause, posing a substantial global health burden. A recent study published in Nature Genetics showcases on how to address this burden. #RareDiseases #Diagnostics Read my high-level

"The face is like a checksum of your genome". Do you think this is a good catch phrase for NGP?

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…