The #Genomics101 series of e-learning modules are an accessible first step into #genomics and its relevance within #ClinialPractice for #HealthcareProfessionals. genomicseducation.hee.nhs.uk/education/onli… Genomics Education

Join myself and Prof Emma Baple in Hall 1 at 11.30 today to hear the latest updates on whole genome sequencing in Paediatrics and future directions 🧬#RCPCH24 Exeter Rare Disease ExeterGenomes NHS SW Genomic Medicine Service Alliance

This is so cool - a remarkably frequent mutation in a non-protein-coding RNA gene, which causes around one in every 200 currently undiagnosed cases of developmental delay around the world (including 8 Australian families so far!). A couple of thoughts (1/3)

📢Academic Trainees 👩‍⚕️in Clinical Genetics 🧬Come to Exeter! Applications for National Institute for Health and Care Research ACF & ACL posts open now on Oriel for July / Aug 2024 start Applications close Tues 23rd April (See following tweet for application links) I did an ACF and PhD here, happy for DMs

Fantastic Flow Design Practical Skills workshop from Royal Devon NHS Transformation for Exeter Genomics Lab 👏 Will be incorporating this learning across the services we offer for patients, building on our culture of #continualqualityimprovement ↗️ ExeterGenomes Exeter Clinical Laboratory South West Genomic Laboratory Hub

We are getting amazing emails from people who have identified individuals with RNU4-2 variants ❤️ If this is you, and your families are interested in meeting others or being part of a community, then please direct them to Unique (Sarah Wynn).

Thank you to everyone that attended our R14 National MDT session this afternoon. We shared an animation created by Matthew Wakeling showing the process of short read whole genome sequencing that received a lot of positive feedback - here it is 🧬🧬🧬 youtube.com/watch?v=x_Xs5N…

The sun is shining in Berlin #ESHG2024 🇩🇪☀️ Join the Exeter team at CS17 DNAnexus & NHS - DNAnexus enabling large scale informatics in NHS rapid diagnostic testing 👩‍💻 SUNDAY 12:00 Room: New York 2 #rapidWGS #longreadseq #R14 ExeterGenomes DNAnexus, Inc. Exeter Rare Disease Lucy Mallin South West Genomic Laboratory Hub

Anyone looking for free lunch at #ESHG2024 come and see us with @DNAnexus at 12pm!... you'll get some exciting science too of course 🤓

Thanks to everyone that joined us to hear about the continual improvement to rapid diagnostic genomic services for critically ill children with rare disease - Fantastic and inspiring session Exeter Rare Disease Lucy Mallin 👏 Professor Dame Sue Hill NHS Genomic Medicine Service Oxford Nanopore @exetergenomes DNAnexus, Inc. #ESHG2024

What a fantastic time at #ESHG2024 So many highlights and can't wait to catch up on the parallel sessions I missed! Such a rich source of learning ExeterGenomes

Last up at #ESHG2024 for Exeter Med School is Claire Salter (Claire Salter), describing new genotype-phenotype correlations in the clinically diverse complex Pi4KA-related syndrome & her work with the Pi4KA community family support group #ProudPI moment 🌟 Unique

So many posters, so little time! Thanks to those that came to visit mine but if you missed it you can find out more here in our commentary piece thelancet.com/journals/laneu… #ESHG2024 ExeterGenomes Exeter Clinical Laboratory NHS SW Genomic Medicine Service Alliance

What better excuse for a cake sale than #Rarechromday 👏 All proceeds going to the fantastic Unique 🥰 What a team of bakers we have! (Minus me 😅) Sarah Wynn ExeterGenomes Exeter Clinical Laboratory NHS SW Genomic Medicine Service Alliance

Well, the sugar has definitely served us well today 😍 I might not sleep tonight but we've certainly been getting through plenty of genome analysis for our patients with rare disease! 👩‍💻 ExeterGenomes #rarechromoday

A thought-provoking and insightful comment piece on the possibilities and challenges of applying genome sequencing for newborn screening 🧬🤱 A worthwhile read for all looking to the future Sarah Wynn Sian Ellard Richard Scott Daniel MacArthur Siddharth Banka Exeter Rare Disease ExeterGenomes

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in nature nature.com/articles/s4158… 🧵 1/16

🌟New disease gene🌟 Another GeneMatcher success story 👏 ExeterGenomes South West Genomic Laboratory Hub Exeter Rare Disease #RFC4