Heading to the poster session Friday afternoon at #ASHG25? Stop by Dr. Laurens van de Wiel's (@laurensvdwiel.bsky.social) poster to learn more about: "ESMO-MD: Evolutionary Scale Model Optimized on Meta-Domains learns human protein domain embeddings for variant effect prediction" Poster 4033F

Dr. Laurens van de Wiel (@laurensvdwiel.bsky.social) presents: "MetaDome 2.0: Aggregation of genetic variants across homologous human protein domains improves variant impact investigation" #ASHG25 Thursday afternoon poster 4109T #RareDisease #Research

Excited to share my first PhD paper in the @sbmontgom.bsky.social lab with @tamigj.bsky.social (www.biorxiv.org/content/10.1...)! Standard QTL methods treat each gene independently. But what if a single variant regulates multiple nearby genes at once - what we call “allelic proxitropy”? 🧵 ⬇️

New paper alert! A chromosome-scale genome of Meloidogyne hapla. A devastating plant pathogen. But this is not just another genome. www.biorxiv.org/content/10.1... 🧵 NO CANONICAL TELOMERES but a novel 16-mer repeat at chromosome ends. A new mechanism for chromosome-end maintenance?

I rebuilt the torrent file on archive.org/details/2025... and it should be all set.

We're looking for suggestions on how to update and adapt the Minimum Information about an Uncultured Viral Genome (MIUVIG) reporting standard. What works? What needs updating? Check out the survey forms.gle/DPHvMFe8Gsdj... 🧵

🚨 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! 🧬

We identified protein domains in LUCA (Last Universal Common Ancestor). Their distinctive amino acid usage reveals the order amino acids were added to the genetic code, based mostly on size. Older proteins hint at earlier alternative codes. 1/15 @seekingluca.bsky.social www.pnas.org/doi/10.1073/...

Strongly recommending new Sky-ers to have a look at this blog. Lists multiple genomics / bioinformatics focused starter packs and two block/mute lists to make it less like the other place

So proud of my Colleague Maggie!

Now: discussion on policy in AI/ML in human genetics and genomics #ASHG24 🧪🧬🖥️

Me trying to keep in the loop on what is happening at #ASHG24 while trying to ignore negativity on my timeline

I want to try something new at #ASHG24 this year: I'm going to block some time on Friday afternoon to meet with any trainees who would be interested to chat on any topic.

I created a genomics+bioinformatics starter pack. If I left you off, *please* reply and I'll add you! go.bsky.app/B5YYBfq

Twitter has become such a cesspool of toxic or grifting accounts polluting my timeline. BlueSky reminds me of how great Twitter was long ago. Follow me for content on rare diseases, bioinformatics, protein sequence and structure utilization of deciphering the genome and spliceosome.