ExeterGenomes

We are excited to share our new paper out today in Nature Genetics which explores de novo mutations in DNA secondary structure and identifies two novel #diseasegenes nature.com/articles/s4158…

C01.01 First livetweet (yes I'm a bit old school) of #ESHG2025 for me 🔍Diagnosis detective Susie Walker from @GenomicEnglands presenting SV calling from across their short-read WGS cohort highlighting multiple diagnoses not apparent with CNV calling alone #WGS

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

Happy to finally share our latest Mendelian gene discovery work on #KDM2A where de novo variants cause a syndromic neurodevelopmental disorder. A great collaboration incl. lab of Udai Pandey, @Stephan_HolgerD @hcmefford & many more. 👇 #MorbidGene medrxiv.org/content/10.110…

📢Call for Abstracts - 1st EpiGenrare Conference 📃Please submit before 17thFeb using link below: forms.office.com/e/GxhFZMf5Ha Event Details: 🗓️26th March 2025, 10:00 - 16:30. 🏨Hyatt Regency, Manchester 🎟️FREE Tickets here: buytickets.at/rdrukepigenrar… @RDRUKHub @smbanka @mikeyab6872

We’re pleased to share that registration for the Genomics Training Academy (#NHSgtac) learning environment is now available for professionals in NHS genomic medicine services. Contact your education/training lead to request a registration pack. Learn more: buff.ly/41c5hct

GenROC has been open for almost 2 years. We will close to new participants in 4 days but there is still space so don't miss out....And you have until the end of March to complete questionnaires

Support, knowledge & community can change lives. Swipe to read heartfelt stories from some of the brilliant scientists, geneticists & doctors we have had the fortune to work with. Our work extends globally, offering resources on rare chromosome and gene disorders.

New Guide Available: ReNU syndrome (RNU4-2) 🧬 We're pleased to announce the release of a new guide on ReNU syndrome, a rare genetic condition that was first reported in 2024. Visit bit.ly/ReNUsyndrome to learn more about ReNU syndrome. #ReNUSyndrome

On #InternationalDayofWomenandGirlsinScience I want to thank all the women working in healthcare science across the NHS and the world. You make a difference to patients every day by supporting the diagnosis & treatment of diseases and implementing new & innovative technologies.

If you or someone in your family has had genome sequencing through the NHS, we want to hear your opinions. This will help us to shape our study and make sure it is tackling issues that are important to you. Please contact Holly to find out more via h.ellard@ucl.ac.uk

@ExeterGenomes are celebrating!! The team in Exeter have been delivering diagnoses for children with rare genetic diseases since 2013. Initially as exomes, now thriving as a national rapid genome sequencing service (R14). We've just passed our 9000th family 😮🎉🥳 @SWGLH

As we approach the year's end, I want to say a heartfelt thanks to the NHS healthcare science community and I hope you can take a break over the festive period. Please know that your contributions are deeply valued and we look forward to 2025 being another groundbreaking year.

👀 Consultant job advert👇 Come and work with us in the beautiful South West of England. Home of 🌊🌳and world leading 🧬 (@BristolUni @ExeterBRC @SWGLH and @ExeterGenomes) Please DM me if interested, Im happy to answer any questions / arrange a meeting with our leads 🙂.

So pleased to see the work of the SW team delivering testing for actuely unwell babies and children highlighted today and the combined work of the RD Network of Excellence which strives to continue improving services through new technology. @SWGenomics @SWGLH @NHSgms

findaphd.com/phds/project/b… 🚨New Fully funded PhD opportunity🚨 Examining the role of G-quadruplexes🧬in genetic disorders to discover new diseases and mechanisms @adam_jackson89 Prof Sue Kimber

Great to see this work finally out Lindsey! @yasmintangjx @MitoMonika @RDExeter @EllardSian @ExeterGenomes @NEYGenomics

Our report on gaps in genetic services is now available online from our funders @AdelaideHealthF website. Thank you to them for trusting us to deliver. Míle buiochas to @AlanaJWard8 & @DebbyLambert14 for being great co-investigators. Have a read

Excited to share our @Nature paper introducing constraint metrics for #mtDNA! Constraint models are powerful tools that were missing for mtDNA—until now. By applying our model to #gnomAD, we reveal which sites in mtDNA are most crucial for health & disease nature.com/articles/s4158…

This is such a beautiful paper led by @ChristelDepienn and Caroline Nava, further characterising ReNU syndrome (caused by variants in RNU4-2) and also detailing a role for RNU5B-1 in NDD 🧬 Some highlights 🧵1/8