Thank you to all our members and collaborators for an inspiring and productive @gregor-research.bsky.social meeting last week in San Diego! ☀️🧬 #RareDisease #Research

What if one variant can cause splicing outliers transcriptome-wide? In our preprint, we show how examining transcriptome-wide patterns of splicing outliers can both diagnose individuals with rare spliceopathies and uncover novel disease-gene relationships! (www.medrxiv.org/content/10.1...)

We've created a Starter Pack with GREGoR Cosortium Members: go.bsky.app/KW4m3zR Let us know if you're a part of GREGoR and would like to be added!

Congratulations to my mentee Maggie Maurer, an ASHG Trainee Research Excellence Pre-Doctoral Winner. She discovered a new disease gene in her rotation project last year! The critical method for this project was shared with us by collaborator Vijay Ganesh and clinical work was done by Rodrigo Mendez.

🚨 Excited to announce the Marker paper for the GREGoR Consortium! arxiv.org/abs/2412.14338 Accelerating #RareDisease diagnostics with cutting-edge #Genomics and global data sharing of omics and deep phenotyping from ~7500 individuals on NHGRI AnVIL and much more to come! 🧬