Exeter Rare Disease

Pretty excited about giving Talos a try in the NHS @rdexeter.bsky.social‬. We should definitely be doing regular reanalysis of existing genome-wide sequencing data, just need the right tools!

Proud supervisor moment for the Exeter Rare Disease Group!
Really delighted for Allison Newman @eshg.bsky.social Early Career Researcher Award
That's 3 in a row for our team @exeter.ac.uk 🙌
#ESHG2025 #Genomics
@jamesfasham.bsky.social

We are looking forward to hosting Lein, next time you should come too!
We have your fellow Australian @zornitza.bsky.social with us at the end of this week 🥰
#Collaboration #Genomics

Kartik Chundru (Exeter) @Chundru.bsky.social

Comprehensive characterisation of non-coding and coding effects of de novo mutations in a large-scale rare disease case-control cohort

Trios from GEL, UKB & AllOfUs

Highlight RNU non coding variants & splice site

#ESHG2025

Starting soon ☺️

Phasing ✅ Parent of Origin ✅ SV resolution ✅ from *short* read WGS with @illumina Constellation technology

Haven't heard about this yet?
- see P23.008B at #ESHG2025

@ExeterGenomes
@nihrexeterbrc.bsky.social
@exeter.ac.uk

It's time!!!

An entire session of #eshg2025 on snRNA genes ❤️🤓

At #ESHG25, check out today's workshop with @jamesfasham.bsky.social to learn about the amazing @deciphergenomics.bsky.social‬ (Sunday 14:15, W10)

From migrations of ancient humans to migrations of modern humans...for coffee ☕

#ESHG2025

ESHG Starter pack Join the conversation

📢 Follow ESHG on Bluesky! @eshg.bsky.social‬!
We’ve prepared a starter package to help you join easily.
🔗 go.bsky.app/RsMKmCE

Let’s build the ESHG community together!

Great to see some early results from @genomicsengland.bsky.social Generation Study @eshg.bsky.social ##ESHG2025
Dalia Kasperaviciute explaining what we are learning from this important research on genomic newborn screening

@zornitza.bsky.social @rich-genomics.bsky.social

Great picture from #ESHG2025 of three of my favorite UK superwomen of #Genomics
Unique's @sarahlwynn.bsky.social, @genomicsengland.bsky.social Suzi Walker and @neygenomics.bsky.social Miranda Durkie

Great to see Allison Newman, first up from a fantastic @exeter.ac.uk line up of @eshg.bsky.social speakers.
#ESHG2025 #Genomics

Got a big showing of talented University of Exeter scientists with talks and posters at ESHG25 in Milan. Come along and find out more! @hls.exeter.ac.uk @exeter.ac.uk #ESHG25 @jamesfasham.bsky.social @jingzhan.bsky.social @ambermluckett.bsky.social @chundru.bsky.social @harrygreentkd.bsky.social

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation Bi-allelic UGGT1 variants cause a distinct congenital disorder of glycosylation (UGGT1-CDG) with variable severity, characterized by neurodevelopmental impairment, seizures, dysmorphic features, and m...

📣New from @rdexeter.bsky.social & co!
📄Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation Bi-allelic UGGT1 variants cause a distinct congenital disorder of glycosylation (UGGT1-CDG) with variable severity, characterized by neurodevelopmental impairment, seizures, dysmorphic features, and m...

The Exeter Rare Disease research group is delighted to join Bluesky social
In our first post we wanted to share our collaborative work led jointly with @bcmhouston defining biallelic UGTT1 variants as a new cause of a congenital disorder of glycosylation
Out in @AJHGnews www.cell.com/ajhg/fulltex...