We are looking to bring new talent and clinical academic leaders to Exeter and the South West. Freedom to explore your research ideas in a wonderful setting, do get in touch with @carolinefwright.bsky.social, @jamesfasham.bsky.social or I for an informal discussion.
@exeter.ac.uk
📣New from @rdexeter.bsky.social
📄Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
It was a privilege to be part of this important international effort. How should we determine the value of genomics in healthcare?
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
📢 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
📣New from @rdexeter.bsky.social & co!
📄Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation
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...