We now have an open post-doc position in the lab: crick.wd3.myworkdayjobs.com/External/job... Please apply if you have a background in functional genomics or a related field and are eager to develop methods to map variant effects at scale.

While I was taking a holiday last week, 2 super exciting preprints dropped, adding to another posted 6 days prior. These papers describe a remarkable role for *recessive* variants in *RNU2-2* causing developmental and epileptic encephalopathy 🧵 by the amazing @christeldepienne.bsky.social 👇 1/3

So proud of two postdocs in the team @alextremophile.bsky.social and @ruebenadawes.bsky.social. My role here was one of 'chief cheerleader' with this work truly led by these two superstars 🤩 The key take-home: be careful when using SpliceAI precomputed scores. Why? Read Alex's 🧵to learn more. 🧬💻🩺

1st Bluesky post with recent updates: 1/3 It was incredible to attend and speak at the ReNU Hope Conference in Long Island, NY. This was the first time I met the families and the ReNU warriors, sharing many touching stories. I hope to continue advocacy in China where few are currently diagnosed.

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Just over a week left to apply for these positions - deadline on Thursday 28th August 👇

Our latest research is out today on ‪@medrxivpreprint.bsky.social: www.medrxiv.org/content/10.1... Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk. Led by the amazing Phoebe Dace. This one’s packed full of data, so check out the paper. Quick highlights… 🧵 1/n

Isn't genetics cool??? Within only 145 nucleotides(!) of a non-coding RNA (RNU4-2) - different variants in distinct regions / structures cause three distinct disorders!!! (all discovered within the last 18 months) 🤯🤓🧬❤️

🚨 New preprint led by amazing duo @rociorius.bsky.social and @alexblakes.bsky.social in collaboration with @cassimons.bsky.social, @dgmacarthur.bsky.social and many other amazing folks! ❤️ We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 🧬 See 🧵👇

📣 We are recruiting! Please share!! Are you a bioinformatician / computational scientist who wants to apply your skills to understanding regulatory biology and improving rare disease diagnosis and treatment? 🧠 💻 🧬 🩺 We have two roles available 👇 🧵 1/4

Great career opportunities in Cellular Genomics @sangerinstitute.bsky.social Big data (human in vivo + in vitro) + AI to derive biological mechanisms at scale. We are seeking a range of research expertise including spatial omics and perturbation at scale

📣 We are recruiting! Please share!! Are you a bioinformatician / computational scientist who wants to apply your skills to understanding regulatory biology and improving rare disease diagnosis and treatment? 🧠 💻 🧬 🩺 We have two roles available 👇 🧵 1/4

Last week was the first #ReNUhopeConference It was an enormous privilege to meet many ReNU warriors (they give the best hugs!) and their families, and scientists and clinicians working on ReNU. ReNU Syndrome United have achieved so much in only a single year, building an incredible community 💙

Deadline extended to August 1st! Fully funded DPhil (PhD) in Statistical Genetics at Oxford, available to international candidates!

Can you help??? The amazing families with ReNU syndrome are fundraising to set up a charity registered in the UK. They need £5k to do this. Please donate here if you can (any amount will help!): www.gofundme.com/f/set-up-the... Thank you!!! @renucrew.bsky.social @uniquecharity.bsky.social

Just over a week until our postdoc recruitment closes. If you want to use big datasets and computational methods to understand how the genome works and how that goes wrong in disease, apply! www.jobs.ac.uk/job/DNR261/r...

Ever craved a review that details the diverse mechanisms through which UTR variants have been show to cause rare disease??? Or maybe just curious? Well this review, written by the amazing Dr @nechamawieder.bsky.social , is for you 🤓🧬🩺

The government’s strong support for genomic healthcare in the 10 Year Health Plan is a vote of confidence in the power of genomics to transform lives. We are excited about the role we will play in bringing this to life. Read the 10 Year Health Plan here: www.gov.uk/government/p...

📢 Episode 4 of the #eshg Webinar Series is on June 25 at 16:00 CEST! 🧬 Speaker: Kaitlin Samocha on variant interpretation using population data 💻 Registration is free but mandatory: wma.eventsair.com/eshg-webinar... 📩 Past registrants will receive the Zoom link automatically.

You can now view #VariantEffect25 presentations from @pollyfordyce.bsky.social @davidjadams.bsky.social @nickywhiffin.bsky.social along with many many others! on our YouTube channel www.youtube.com/@cmap_cegs84... (hat tip to @isabellease.bsky.social for the excellent illustrations)

Here: Baby KJ at home with his mom Nicole. This really happened, folks. Hundreds of people from 8 organizations (led by Rebecca Ahrens-nicklas and Kiran Musunuru) came together to make a bespoke gene editor for this kiddo. He was once in the 7th percentile of body weight. Look at him now! ❤️

ReNU syndrome in yesterday's Washington Post ❤️ The amazing families are pushing to raise awareness. The article shows how important that awareness can be: "His family just learned his diagnosis in April, thanks to a network of eagle-eyed moms". #mumPower www.washingtonpost.com/dc-md-va/202...

Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social www.ft.com/content/25dd...

Huge bonus of a hybrid conference - even if you have to fly home, you can log on to listen to two amazing and inspiring award lectures! Including from my absolutely incredible mentor, collaborator, and friend @dgmacarthur.bsky.social 🤩👏 Importantly, accompanied by a proper cup of tea 😊 #eshg2025

Come along today and see me and Harry begin to tackle the exponentially increasing population scale WGS data! #ESHG2025 #ESHG25

Thank you Milan and #eshg2025, you have been fab! Getting out early as two back-to-back meetings is a little too intense for me. Great to catch up with so many, and sorry to everyone I missed this time out. Looking forward to being back in my own bed!

OK, I'm starting to get #ESHG25 FOMO now! Those of you who are there should check out a poster from our group @hls.exeter.ac.uk investigating penetrance of variants in TSC1 & TSC2, with implications for newborn genome screening.(P15.033.D - pop by for a chat Monday 4-5pm)

The team have all done their job beautifully #proudPI - now it is my turn. Join us in the late breaking session to hear about collaborative work with @gregfindlay.bsky.social on saturation genome editing of RNU4-2 (at 11:30). You will also get to hear the awesome @chundru.bsky.social! #eshg2025

#eshg2025 Today at 2.15pm in Amber 2 I'll be presenting our work on developmental conditions in the 100,000 Genomes Project (Genomics England corporate session). Then at 5.15pm in the Auditorium I'll talk about recessive effects in rare & common disease (consanguinity session).

Increase your step count before your next round of pasta tonight, and come chat penetrance with us in the final session of today at 5.15pm in the auditorium #ESHG2025 🍝

It's time!!! An entire session of #eshg2025 on snRNA genes ❤️🤓

Anthony McGuigan on large-scale comparison of short-read CNV and SV to re-evaluate unsolved cases. Taking the audience right down to IGV-level read screenshots for PDC (OMIM *171490). #raredisease #genetics @nickywhiffin.bsky.social #eshg2025 Stay tuned for #dessertsofeshg

If you are interested in the genetics of biomarker aging clocks, I have a poster at 4pm tomorrow on GWAS of metabolomic aging in UKB: P18.051.B The impact of genetics on different measures of metabolomic aging and common disease #eshg2025

Up next in the gold plenary session on "genome wide approaches for rare disease are two super 🌟s, PhD student Anthony and postdoc Francois talking about homozygous deletions and pseudoexons, respectively. Well worth delaying that prosecco for, I promise!!

Back at #ESHG25 after (way too) many years! Talking tomorrow on Sun at 9:30 about some of our cell painting work in neurons - come say hi. See also these presentations from my team: #eshg25

#veryBritishProblems at #eshg2025 - trying to source hot water for my stash of tea bags... 😬 Anyone have any tips, I would love to hear them! (exhibition hall has only pre-made tea 🤢). I am not sure asking a random worker to wander off and fill my keep-cup is a sustainable strategy 🤣

🗣️ Quote of #ESHG2025 (so far) "Who licks bone !?!" 🦴 - Johannes Krause Anyone have that on your bingo card? Well apparently archeologists do, to distinguish bone from stones and it causes problems in DNA sequencing. 🤔

Now on in Gold #ESHG2025 Yuyang Chen @nickywhiffin.bsky.social and using Ribo-Seq to identify small ORFs important in #raredisease 🔍🧬 multiple new diagnoses found, due to both novel and recurrent variants

C01.05 Yuyang Chen (Oxford, RNU4-2) educating me about smORFs (small open reading frames, not Smurfs 🔵) - Potential to make small proteins - Can regulate nearby ORFs - Can cause Mendelian disease - Detect with RiboSeq (Ribosome profiling) @[email protected] #ESHG2025

First up in "Improving the diagnostic yield of rare diseases" (gold plenary room) is amazing student Yuyang Chen - 5th talk at 11:30. He will talk about annotating variants in novel small ORFs, including the story of how he came across that variant in RNU4-2... 🧬 #eshg2025 #eshg25

It's #eshg2025 #eshg25 time 🥳 Here is where you can catch the team over the next few days. Please go and say hi!

Attending #ESHG2025? 🧬 🗺️Can't find Gate 16? 📍go to *Gate 2* (pictures below). This may save you a half an hour walk around the giant perimeter 😪

Got a big showing of talented University of Exeter scientists with talks and posters at ESHG25 in Milan. Come along and find out more! @hls.exeter.ac.uk @exeter.ac.uk #ESHG25 @jamesfasham.bsky.social @jingzhan.bsky.social @ambermluckett.bsky.social @chundru.bsky.social @harrygreentkd.bsky.social

After a fantastic few days at #VariantEffect25 in beautiful Barcelona (see below), now hopping my way to Milan for #ESHG25 #ESHG2025. Looking forward to catching up with everyone 🧬🤓

🤗 Hugely excited to share our work on automating iterative reanalysis in #raredisease, preprint out: www.medrxiv.org/content/10.1... 🤖🧬 github.com/populationge... A superb collaboration with @dgmacarthur.bsky.social @cassimons.bsky.social @heidirehm.bsky.social @ksamocha.bsky.social and many more!

Congratulations @carolinefwright.bsky.social for being elected to a fellow of the Academy of Medical Sciences! 🍾! news.exeter.ac.uk/faculty-of-h... @nihrexeterbrc.bsky.social

Love this ❤️

Tag teaming workshops on variant interpretation with one of my favourite humans @ksamocha.bsky.social in an Italian castle surrounded by frescos #bertinoro 🇮🇹 @eshg.bsky.social @deciphergenomics.bsky.social

Happy birthday, David Attenborough! 99 ways he has inspired us, by Barack Obama, Billie Eilish, Morgan Freeman – and many more

This is interesting — a recent study of mode share (the % share of transportation trips by car, transit, walking, biking etc) relative to city size and income levels in almost 800 cities in 61 countries. Interesting results. HT @davidzipper.bsky.social www.sciencedirect.com/science/arti...