Fabulous few days at #SGGDExeter2024, with some inspiring science, people and views! Enjoyed talking about DDD and learning about diabetes genetics. Thanks Mike Weedon Sarah Flanagan for a great meeting.

Excellent first annual meeting of the Wellcome PARADIGM team, paradigmgenomics.org. We shared some exciting science and had fun along the River Exe! Ensembl The DECIPHER Project 🧬Ian Simpson🏴󠁧󠁢󠁳󠁣󠁴󠁿 Helen Firth Jonathan Mill Joe Marsh James Ware @exetermed

Nice end to the week - another paper out! Lovely work from Robin Beaumont looking at clustering of predicted loss-of-function variants in UK Biobank; explains incomplete penetrance in some dev disorder genes. genomemedicine.biomedcentral.com/articles/10.11…

We are hosting the South of England Genetic Epidemiology Group (SEGEG) meeting at the University of Exeter on July 1st! Registration is free and now open - forms.office.com/e/tengc4eKLk

Great to be helping scientists from Clinical and Biomedical Sciences University of Exeter Faculty of Health & Life Sci to write better papers at our retreat in Torquay Lincombe Hall Hotel, with Caroline Wright

Fantastic retreat in Torquay, working with students and staff from Exeter Med School and Anna Murray focusing on developing good scientific writing skills. So important, and fun too!

Very excited to see AlphaMissense scores integrated Ensembl, UniProt & the AlphaFold database. Great work by EMBL-EBI on the interactive visualisations - love the interactive heatmap in AFDB.

#AlphaMissense scores from Google DeepMind are now displayed on @Ensembl #VEP annotation tabs - these scores categorise single nucleotide missense variants as either likely pathogenic or likely benign EMBL-EBI #genomics pic.x.com/zdiholqeuj

Delighted to share this important preprint - remarkable isoform diversity in brain paves the way for new DD diagnoses in novel exons. Come and hear Kartik Chundru present this work at #ESHG2024!

Some fantastic talks so far at #eshg2024 and great to meet so many friends and colleagues from around the world. All very stimulating! Also enjoying cycling through Berlin and seeing the sights 😀

Functional genomics meets genotype phenotype mapping in rare & common disease in Geneva : thanks to many incl. Caroline Wright Kartik Chundru Gareth Hawkes Health 2030 Genome Center Lauric Ferrat Liza Darrous Rosie Bamford Robin Beaumont

Fantastic après-#eshg2024 meeting in Geneva with Tim Frayling and colleagues. Squeezed in some more site-seeing and cycling! Heading back to the UK with loads of ideas🙂 and an overflowing inbox☹️

Today is #rarechromoday - raising awareness both of rare chromosome and gene disorders, and of the amazing work that Unique does to support individuals and families living with rare conditions.

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 ⁩Kathryn Stott 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…