What an evening in North Cornwall😀. Imagine working somewhere with this on your doorstep. University of Exeter Faculty of Health & Life Sci currently recruiting for genomics and data science faculty posts. jobs.exeter.ac.uk/hrpr_webrecrui…. Please RT.

Revisiting this fantastic video by Exeter Med School 📺 Meet Professor Emma Baple and Hannah Robinson 🧬☀️ and learn more about the pioneering work of our fantastic professionals developing and delivering world-leading #GenomicServices 🧬 #GenomicsConversation Exeter Rare Disease ExeterGenomes South West Genomic Laboratory Hub

Our ACMG WG will give guidance on when labs should and should not report VUS, including the use of VUS subclasses coming in the next Sequence Variant Classification guidelines. Please share your opinion on VUS reporting through our <10 min survey forms.gle/niNoAwfQmbWns7…

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

Interested in penetrance? Read our new "Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts" in Nature Genetics - including top 10 tips for avoiding errors! Link to paper doi.org/10.1038/s41588… and full PDF rdcu.be/dPjsd

Feeling inspired after some brilliant music-filled days at Chethams International Piano Summer School. Strongly recommend!! Many thanks to other participants, fantastic organisers ⁩⁦Kathryn Page Murray McLachlan, and my fabulous teachers ⁩@kathystott Adam Swayne Douglas Finch

In our latest work, we explore the contribution of rare, typically inherited, damaging genetic variants to the risk of severe developmental disorders (DDs) and establish a major role for incompletely penetrant rare variation. Now out on medRxiv: medrxiv.org/content/10.110…

I'm very excited to have our work on recessive developmental disorders published at Nature Genetics! See here for the tweetorial (x.com/kartikchundru/…). There were some exciting updates during the reviews which I'll highlight here... (1/n) sanger.ac.uk/news_item/most…

New paper in AJHG investigating the phenotypic spectrum of dual diagnoses in developmental disorders - doubly unlucky patients with two independent genetic conditions. Lovely work from two Exeter Med School students, plus Kartik Chundru Helen Firth. doi.org/10.1016/j.ajhg…

The ACGS position statement: Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access, is online jmg.bmj.com/content/early/… Collaborative best practice guidance involving Unique NHS Genomic Medicine Service Wales Gene Park Genetic Alliance GenQA (Genomics Quality Assessment) & others🧵

Today we celebrate the 5 year anniversary of the NHSE R14 service - that went live October 1st 2019🧬 The service has grown since then - now offering rapid testing to 1200 families per year by whole genome sequencing on the first NovaSeq Xp to be installed in the NHS 🧬⭐️🧬⭐️

Jaydi’s bone marrow transplant may have saved her life. She’s among thousands to benefit from a genetic study which diagnosed children with rare genetic conditions. Read more on the Deciphering Developmental Disorders study outcomes: news.exeter.ac.uk/faculty-of-hea… Wellcome Sanger Institute

Thank you to the many clinicians, scientists, patients and families involved in the DDD study, Wellcome Sanger Institute Helen Firth Matt Hurles. A genetic diagnosis in rare diseases makes a huge difference to clinical management and patient outcomes, see: doi.org/10.1016/j.gimo…

Pseudo-natural history made from dozens of DDD patients with the same genetic condition, expertly done by Karen Low. Highlights phenotype variability and differences in onward referrals, see doi.org/10.1016/j.gimo…

Amazing coverage of DDD study on BBC News & BBC Inside Health, thanks James Gallagher. Genetic diagnosis changed management in 28% of patients. Humbling to hear about Jaydi's diagnosis & treatment, Exeter Med School Royal Devon NHS NHS SW Genomic Medicine Service Alliance Wellcome Sanger Institute bbc.co.uk/programmes/m00…

Super away day with the Rare Variants team Exeter Med School today - interesting scientific discussions and a beautiful walk along the Teign valley in gorgeous Autumn sunshine!

Superb finale to #BSGM2024! Sian Ellard sharing inspiring stories from an impressive career dedicated to advancing #Genomics, championing multidisciplinary best practice, education and training BSGM ACGS #ExeterDiabetes 👏

Important ongoing work curating G2P gene-disease relationships with mechanism and mode of inheritance, Helen Firth The DECIPHER Project EMBL-EBI. Numerous panels available to download. genomemedicine.biomedcentral.com/articles/10.11…

Lots of genomics people over on BlueSky 🦋 - come and join us! bsky.app

Probably my last tweet... if you haven't made the switch yet: "Bluesky is much better for science. There is much less toxicity, misinformation, and distractions." nature.com/articles/d4158…