Luke Pilling

🧬 Leigh Jackson (Exeter) presents multiple papers (see EJHG Special Issue ☝️ ) #ESHG2026 Penetrance of TSC, PCD, OI & RB1 across ~900,000 individuals Careful variant & phenotype curation matters In clinically unselected populations, disease risk can be ⬇️ than traditional estimates. #Genomics

🧬 Missense ≠ not splice. Mwenda Rintari (Exeter) show that ~2–3% of missense variants may disrupt splicing Analysis of 8.3M variants found protein effects approaching loss-of-function variants & several candidate diagnoses in unsolved patients. #ESHG2026

Fantastic talk by @denizturkmen.bsky.social at #ESHG2026 on her study of oral corticosteroids: cumulative dose, adverse outcomes, and genetic modifiers of risk

Caroline Wright (Exeter) sharing fundamental knowledge What does the "average" human genome look like?" >900k 🧬 #UKB / #AllofUs / Genome: 1️⃣ ~4.4–5.5 million variants 2️⃣ 2–3 ClinVar P/LP (mostly AR) 3️⃣ ~62–70 de novo variants 4️⃣ ~1 in 5 people in top 1% of PRS for ≥1 disease

Lots of great @exeter.ac.uk researchers here #eshg20266 with talks and posters: check them out!

Excited to be at #eshg2026 - I'm in session C02, interesting talks on longitudinal disease modelling and genetics If you're here pop me a message and let's get a coffee!

So anyone got any good holiday plans whilst access to both UK Biobank and Our Future Health are suspended?

Is there anything more satisfying than overcoming an analytic/coding challenge before it has got too late? #sohappy #goodnight

GWAS meta-analysed summary statistics for 72 long-term conditions from the GEMINI collaborative updated to v1.1 🌟 The input GWAS are the same but we have fixed several minor issues since the original release v1.0 See our GitHub for links (incl. to Zenodo) github.com/GEMINI-multi...

This is truly fascinating, excellent paper. Likely true for a great many diagnoses, which we totally miss by including all cases in GWAS and adjust for age

Really pleased to be working with @lcpilling.bsky.social and others investigating haemochromatosis, a surprisingly common rare disease with high penetrance in older adults! Recent publication highlights the effect of polygenic score on penetrance of HFE p.C282Y homozygotes. doi.org/10.1016/j.jh...

If you're looking to build or deepen your knowledge in statistical genetics, the ISG Workshop (June 1–11) covers the full range: biometrics, GWAS, polygenic scores, causal inference, and more. Open to all levels, virtual, and international: www.colorado.edu/ibg/workshop... Retweets appreciated 🙏

Niche R package with epidemiology tools anyone? 📦 Named it {yodr} (phonetically "Yoda") which I cannot believe no-one has done before to be honest! Main functions are for "tidy" model output (extends {broom} package) and PheWAS. Also functions for extreme p-values, etc lcpilling.github.io/yodr

The scale of this whole genome analysis conditioning across large biobanks is extraordinary, revealing novel LDL cholesterol biology 🧪 Bravo to @hiwwright.bsky.social, @drghawkes.bsky.social and the teams from Exeter and Geneva 👏 See Harry's post below for a wonderful analysis & results breakdown

Hear about the awesome research into Healthy Ageing and Chronic Disease @exeter.ac.uk Fantastic overview from the always inspiring @janemasoli.bsky.social Special mention to @lornah.bsky.social, Chris Scotton, and the 100s of fabulous colleagues behind the science www.youtube.com/watch?v=kGlY...

I'm seeing relatively little chatter or outcry about what is happening at the MRC, the UK's biomedical research funder. Before Christmas MRC paused the acceptance of many of its grants, including the standard applicant-led research grant. There has been no public information on what is happening 🧵

Update to my UK Biobank R package {ukbrapR} 🌟 Get imputed variants (load genos or for PGS) using chr:pos not RSIDs (+ MAF, INFO etc). It can also do this for DRAGEN WGS 🐉 Thanks to @harrygreentkd.bsky.social for the help (and pub+pint whilst bug checking!) 🍻 v0.3.10 :: github.com/lcpilling/uk...

Got to say, pretty impressed by the GitHub Copilot coding agent... for repos with my existing code it is fantastic for extending to new analyses that I am interested in doing i.e., it looks at your coding style, data structures, etc and creates a Pull Request for you to review

I don't normally do work on Saturdays (though often end up catching up in evenings due to young children etc) These Saturday GitHub commits were on nerdy personal repos where I annually analyse data about my central heating (Raspberry Pi managed) and my car fuel efficiency 😅 a wild Saturday evening

Why do some individuals defy their polygenic score? In the largest study of its kind (402k UKB individuals; 7 continuous traits + 3 diseases), we asked: If your phenotype deviates from common-variant polygenic score prediction, what's driving that difference? www.medrxiv.org/content/10.6...

January @DEMONNetworkUK Biomarkers working group is hosting an Inflammation special with Dr Maura Malpetti and Dr Sofia Michopoulou “Unravelling Inflammation in Dementia: Proteomic and Imaging Insights” 📅 Wed 14th Jan 10.30am GMT. New members welcome - pls message for details.

Bookmarked! 🔖

Somehow finished my to-do list (well, the urgent stuff) so early Xmas present to myself is a few (uninterrupted? 🤞) days on DNAnexus with the new release of UK Our Future Health data 🤩

Great to be back at the @ukbiobank.bsky.social scientific conference 2025 to meet old friends and make new collaborations #UKBSC25 Positive opening remarks from Prof Collins RE growing data linkages (GP data actually incoming? 🤞) and amazing research outputs Message if you're here and want to chat

(Re)discovered the ability to "mute" words from the feed. I come here for your niche science, health data, and genetics posts ❤️ I do not need anything about cats or certain megalomanic billionaires (though at least your cat pictures were cute)

There’s a new kid in town! Companies are now selling IVF and embryo selection based on genetic testing for traits related to health and even intelligence. We outline methodological and ethical concerns, and warn against risks for social inequality. With the fantastic @gaiaghirardi.bsky.social

First time on Bsky and first big announcement! I am excited to announce that our new study explaining the missing heritability of many phenotypes using WGS data from ~347,000 UK Biobank participants has just been published in @Nature. Our manuscript is here: www.nature.com/articles/s41....

Post-doc opportunity in Exeter 🌟 studying genetic modifiers of haemochromatosis 🩸 Closing date 30 Oct! Come and work with a interdisciplinary team of epidemiologists, clinicians, and statistical geneticists, in a beautiful city in the South West of England ❤️ jobs.exeter.ac.uk/hrpr_webrecr...

@ewanbirney.bsky.social on the new version of Alphafold at the @emblebi.bsky.social www.ebi.ac.uk/about/news/t... AlphaFold has been a transformation not just in structural biology but also - due to its ability to be applied to all proteins - to molecular biology as a whole.

One of the biggest increases in my analysis/coding productivity in recent years is completely embracing git repos 🐧 Coupled with GitHub it is *so easy* to be open, reproducible, efficient, and accountable to myself and colleagues 👨‍💻 No more chaotic servers wondering which script led to what! 😵‍💫

What an amazing place to present GEMINI research on steroid pharmacogenomics and osteoporosis by @denizturkmen.bsky.social @lcpilling.bsky.social and the GEMINI #MLTC team @universityofexeter.bsky.social #EUGMS2025

Post-doc opportunity in Exeter 🌟 studying genetic modifiers of haemochromatosis 🩸 Closing date 30 Oct! Come and work with a interdisciplinary team of epidemiologists, clinicians, and statistical geneticists, in a beautiful city in the South West of England ❤️ jobs.exeter.ac.uk/hrpr_webrecr...

Number 1 way journals make me happy at the moment: "YOU DO NOT NEED TO SPECIFICALLY FORMAT YOUR MANUSCRIPT FOR FIRST SUBMISSION" #AcademicLife #AcademicChat

Latest preprint by PhD student Mitch Lucas on the genetic iron overload disease #haemochromatosis doi.org/10.1101/2025... Massive study of factors affecting clinical outcomes in HFE carriers, including genetic predisposition to higher transferrin saturation @janicelatkins.bsky.social @exeter.ac.uk

Very exciting to have access to "Our Future Health" data and begin understanding what is available and how to access it Many thanks to the volunteers so far. Still a long way to go - consider signing up if you haven't already! This is a greater primer on the aims www.nature.com/articles/s41...

Study of 230,000 people finds many examples where the effect of a genetic variant differs depending on the parent of origin, especially for growth and metabolism - fascinating! Amazing study, congrats @rjhfmstr.bsky.social, @zkutalik.bsky.social and team 👏

Love a good DAG ❤️

Exciting session on using the (appropriately named) "Epic" secondary care electronic healthcare records data for research by Prof Jane Masoli (pictured), Dr Nick kennedy and Michelle Ledbetter at the @swaih.bsky.social 2025 meeting @janemasoli.bsky.social @drnickkennedy.bsky.social

Inspiring talk by @jessrmorley.bsky.social‬ at the @swaih.bsky.social annual meeting Really important issues to consider. Especially liked the "data availability law" (availability of high quality health data inverse to the health/care needs of the individual)

Lausanne Comp Bio Symposium 2025 (cbiosymposium.unil.ch) 🗓 Abstract deadline 30 June (𝟑 𝐝𝐚𝐲𝐬 𝐭𝐨 𝐠𝐨!!!) 🎤 Oral presentation notifications: 7 July ✅ Early Bird registration deadline: 11 July 💰 Registration fee for non-PI: 150 CHF