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."

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

Important ongoing work curating G2P gene-disease relationships with mechanism and mode of inheritance, @HelenVFirth @deciphergenomic @emblebi. Numerous panels available to download.

RT @TWright_GenomeX: Superb finale to #BSGM2024! @EllardSian sharing inspiring stories from an impressive career dedicated to advancing #Ge….

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

Amazing coverage of DDD study on BBC News & BBC Inside Health, thanks @JamesTGallagher. Genetic diagnosis changed management in 28% of patients. Humbling to hear about Jaydi's diagnosis & treatment, @ExeterMed @RoyalDevonNHS @SWGenomics @sangerinstitute

Pseudo-natural history made from dozens of DDD patients with the same genetic condition, expertly done by @drkarenlow. Highlights phenotype variability and differences in onward referrals, see

RT @ExeterMed: Jaydi’s bone marrow transplant may have saved her life. She’s among thousands to benefit from a genetic study which diagnose….

Thank you to the many clinicians, scientists, patients and families involved in the DDD study, @sangerinstitute @HelenVFirth @mehurles. A genetic diagnosis in rare diseases makes a huge difference to clinical management and patient outcomes, see:

RT @ExeterGenomes: Today we celebrate the 5 year anniversary of the NHSE R14 service - that went live October 1st 2019🧬 The service has gro….

RT @RDExeter: The @acgs_news position statement: Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access,….

New paper in @AJHGNews investigating the phenotypic spectrum of dual diagnoses in developmental disorders - doubly unlucky patients with two independent genetic conditions. Lovely work from two @ExeterMed students, plus @kartikchundru @HelenVFirth.

RT @kartikchundru: I'm very excited to have our work on recessive developmental disorders published at @NatureGenet! .See here for the twee….

RT @ksamocha: In our latest work, we explore the contribution of rare, typically inherited, damaging genetic variants to the risk of severe….

Feeling inspired after some brilliant music-filled days at Chethams International Piano Summer School. Strongly recommend!! Many thanks to other participants, fantastic organisers ⁩⁦@chethampiano @MurrayMcPiano, and my fabulous teachers ⁩@kathystott @AdamSwayne @douglas_finch.

Interested in penetrance? Read our new "Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts" in @NatureGenet - including top 10 tips for avoiding errors! Link to paper and full PDF

RT @nickywhiffin: So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out toda….

RT @HeidiRehm: Our @TheACMG WG will give guidance on when labs should and should not report VUS, including the use of VUS subclasses coming….

RT @SWGenomics: Revisiting this fantastic video by @ExeterMed 📺. Meet Professor Emma Baple and @DrHKRobinson and learn more about the pione….

RT @PsyEpigenetics: What an evening in North Cornwall😀. Imagine working somewhere with this on your doorstep. @uniofexeHLS currently recrui….