Exeter Rare Disease
@rdexeter.bsky.social
Prof Emma Baple and team at @exeter.ac.uk defining the genomic and molecular basis of rare diseases https://wohproject.com/
What's the difference between MANE Select and MANE Plus Clinical transcripts? We systematically compare all 65 genes with both using @genomebrowser.bsky.social and @ensembl.org, highlighting implications for genomic diagnostics. www.researchsquare.com/article/rs-9...
Pleased to share our new preprint “Long-read genome sequencing resolves a complex structural variant involving TBCD and exposes a gap in existing variant classification frameworks” www.researchsquare.com/article/rs-9...
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
Caroline Wright@carolinefwright.bsky.social · 6mo agoSome exciting openings in Exeter for clinical academics (professor and senior lecturer). Come and shape the future of translational genomic medical research in the South West! Lovely place to work, lovely people to work with, and freedom to pursue great science... www.linkedin.com/jobs/view/43...
📣New from @rdexeter.bsky.social 📄Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
Fasham and colleagues report a palindrome-mediated genomic disorder causing a recognizable, severe phenotype marked by early-onset progressive ataxia, cognitive decline, and cerebellar atrophy. Microa...
cell.com
It was a privilege to be part of this important international effort. How should we determine the value of genomics in healthcare?
Zornitza Stark@zornitza.bsky.social · 8mo agowww.nature.com/articles/s41... 🔥🔥🔥 Is genomics value for money??? 🧬💰 👉 How do we define it? 👉 Measure it? 👉 And deliver it? rdcu.be/eR243 @iliasgoranitis.bsky.social @stephaniebest.bsky.social @hadleyssmith.bsky.social @rich-genomics.bsky.social @jbuchanan-ox.bsky.social @rdexeter.bsky.social
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!
GenomeSeb@genomeseb.bsky.social · last yr.@zornitza.bsky.social updating on Talos automated reanalysis pipeline #ESHG2025 >250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable! Pre-print now out: www.medrxiv.org/content/10.1... Talos is #portable #opensource: github.com/populationge...
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
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 ☺️
James Fasham@jamesfasham.bsky.social · last yr.Looking for a workshop at 14:15? #ESHG2025 Since you're currently reading this, how about... "Has social media broken scientific knowledge sharing?" - subject experts, lively debate, audience engagement 📍 Sequencing Square (↗️ turn right as you enter exhhibitor hall)
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
At #ESHG25, check out today's workshop with @jamesfasham.bsky.social to learn about the amazing @deciphergenomics.bsky.social (Sunday 14:15, W10)
📢 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!
ESHG Starter pack
Join the conversation
go.bsky.app
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
James Fasham@jamesfasham.bsky.social · last yr.Dalia Kasperaviciute @GenomicsEngland #ESHG2025 Early results from the Generation Study: genomic NBS in 100,000 newborns - 10,000 recruited - 4% => scientist review - 27 => diagnosed - 6 confirmed clinically - 1 refuted was AR in cis - TAT 3-4 weeks
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
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...
cell.com
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...
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...
cell.com
