Lightnews — Scholar-powered news

Reposted by Exeter Rare Disease

Caroline Wright @carolinefwright.bsky.social · May 28

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 · May 26

@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...

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Exeter Rare Disease @rdexeter.bsky.social · May 27

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

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Exeter Rare Disease @rdexeter.bsky.social · May 27

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

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Reposted by Exeter Rare Disease

James Fasham @jamesfasham.bsky.social · May 26

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

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Reposted by Exeter Rare Disease

James Fasham @jamesfasham.bsky.social · May 26

Starting soon ☺️

James Fasham @jamesfasham.bsky.social · May 26

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)

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Reposted by Exeter Rare Disease

James Fasham @jamesfasham.bsky.social · May 24

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

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Reposted by Exeter Rare Disease

Nicky Whiffin @nickywhiffin.bsky.social · May 25

It's time!!!

An entire session of #eshg2025 on snRNA genes ❤️🤓

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Reposted by Exeter Rare Disease

Caroline Wright @carolinefwright.bsky.social · May 25

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

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Reposted by Exeter Rare Disease

James Fasham @jamesfasham.bsky.social · May 24

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

#ESHG2025

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Reposted by Exeter Rare Disease

European Society of Human Genetics @eshg.bsky.social · May 24

📢 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

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Exeter Rare Disease @rdexeter.bsky.social · May 24

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 · May 24

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

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Exeter Rare Disease @rdexeter.bsky.social · May 24

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

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Exeter Rare Disease @rdexeter.bsky.social · May 24

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

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Reposted by Exeter Rare Disease

Dr Gareth Hawkes @drghawkes.bsky.social · May 23

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

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Reposted by Exeter Rare Disease

The American Journal of Human Genetics @ajhgnews.bsky.social · Apr 22

📣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...

www.cell.com

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Exeter Rare Disease @rdexeter.bsky.social · May 22

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...

www.cell.com

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