Exeter Rare Disease
@rdexeter.bsky.social
Prof Emma Baple, Prof Andrew Crosby and team at @exeter.ac.uk defining the genomic and molecular basis of rare diseases
https://wohproject.com/
https://wohproject.com/
Pinned
Exeter Rare Disease
@rdexeter.bsky.social
· May 22
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
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...
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...
Reposted by 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!
@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...
>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...
May 28, 2025 at 7:37 AM
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
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
May 27, 2025 at 4:41 PM
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
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
Reposted by Exeter Rare Disease
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
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
May 26, 2025 at 9:37 AM
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
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
Reposted by Exeter Rare Disease
Starting soon ☺️
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)
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)
May 26, 2025 at 11:45 AM
Starting soon ☺️
Reposted by Exeter Rare Disease
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
Haven't heard about this yet?
- see P23.008B at #ESHG2025
@ExeterGenomes
@nihrexeterbrc.bsky.social
@exeter.ac.uk
May 24, 2025 at 10:44 AM
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
Haven't heard about this yet?
- see P23.008B at #ESHG2025
@ExeterGenomes
@nihrexeterbrc.bsky.social
@exeter.ac.uk
Reposted by Exeter Rare Disease
May 25, 2025 at 8:32 AM
Reposted by Exeter Rare Disease
At #ESHG25, check out today's workshop with @jamesfasham.bsky.social to learn about the amazing @deciphergenomics.bsky.social (Sunday 14:15, W10)
May 25, 2025 at 6:27 AM
At #ESHG25, check out today's workshop with @jamesfasham.bsky.social to learn about the amazing @deciphergenomics.bsky.social (Sunday 14:15, W10)
Reposted by Exeter Rare Disease
May 24, 2025 at 2:11 PM
Reposted by Exeter Rare Disease
📢 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!
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
May 24, 2025 at 2:34 PM
📢 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!
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
Dalia Kasperaviciute explaining what we are learning from this important research on genomic newborn screening
@zornitza.bsky.social @rich-genomics.bsky.social
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
@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
May 24, 2025 at 7:06 PM
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
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
Unique's @sarahlwynn.bsky.social, @genomicsengland.bsky.social Suzi Walker and @neygenomics.bsky.social Miranda Durkie
May 24, 2025 at 6:59 PM
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
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
#ESHG2025 #Genomics
May 24, 2025 at 6:55 PM
Great to see Allison Newman, first up from a fantastic @exeter.ac.uk line up of @eshg.bsky.social speakers.
#ESHG2025 #Genomics
#ESHG2025 #Genomics
Reposted by Exeter Rare Disease
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
May 23, 2025 at 12:08 PM
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
Reposted by Exeter Rare Disease
📣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 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
April 22, 2025 at 4:49 PM
📣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
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...
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
May 22, 2025 at 1:51 PM
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...
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...