Prof Emma Baple and team at @exeter.ac.uk defining the genomic and molecular basis of rare diseases
https://wohproject.com/
Exeter Rare Disease
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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...
Starting soon ☺️
It was a privilege to be part of this important international effort. How should we determine the value of genomics in healthcare?
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
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
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!
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
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
📣New from @rdexeter.bsky.social
📄Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
It's time!!!
An entire session of #eshg2025 on snRNA genes ❤️🤓
Exeter Rare Disease
Exeter Rare Disease
James Fasham
Exeter Rare Disease
Exeter Rare Disease
James Fasham
James Fasham
Caroline Wright
The American Journal of Human Genetics
Nicky Whiffin
www.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
Assessing the value of genomics is key to informing evidence-based policies; this Review outlines how current approaches to health technology assessment, implementation and data management can be adap...
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...
Some 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...
@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...
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)
