iiinova — where your digital self keeps evolving

Reposted by Luke Pilling

James Fasham @jamesfasham.bsky.social · 16/06/2026

🧬 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

2115

Reposted by Luke Pilling

James Fasham @jamesfasham.bsky.social · 14/06/2026

🧬 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

1195

Luke Pilling @lcpilling.bsky.social · 14/06/2026

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

011

Reposted by Luke Pilling

James Fasham @jamesfasham.bsky.social · 13/06/2026

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

02513

Luke Pilling @lcpilling.bsky.social · 13/06/2026

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

031

Luke Pilling @lcpilling.bsky.social · 13/06/2026

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!

060

Luke Pilling @lcpilling.bsky.social · 30/04/2026

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...

github.com

GEMINI

GEMINI: Genetic Evaluation of Multimorbidity towards INdividualisation of Interventions - GEMINI

044

Luke Pilling @lcpilling.bsky.social · 21/04/2026

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

000

Reposted by Luke Pilling

Caroline Wright @carolinefwright.bsky.social · 25/03/2026

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...

062

Luke Pilling @lcpilling.bsky.social · 11/03/2026

Still manually merging UK Biobank-linked health data? Faffing with Swiss Army Knife to extract variants or create polygenic scores? 🧬 I built {ukbrapR} so we could spend more time on science and less on data plumbing If it helps you, please cite! 📊 citation('ukbrapR') github.com/lcpilling/uk...

github.com

GitHub - lcpilling/ukbrapR: R package for working in the UK Biobank Research Analysis Platform (RAP)

R package for working in the UK Biobank Research Analysis Platform (RAP) - lcpilling/ukbrapR

164

Reposted by Luke Pilling

Abdel Abdellaoui @dr-appie.bsky.social · 10/03/2026

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 🙏

02524

Luke Pilling @lcpilling.bsky.social · 24/02/2026

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

yodr is a small R package with tools for epidemiology and hypothesis testing

020

Luke Pilling @lcpilling.bsky.social · 06/02/2026

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

030

Luke Pilling @lcpilling.bsky.social · 04/02/2026

Latest output from the GEMINI (genetics of multiple long-term conditions) team 🧬 We used genetics to subtract the effect of obesity, revealing multiple conditions that 1) share obesity as a common cause or 2) share other causes 🌟 strong implications for intervention 🥼 Paper doi.org/10.1038/s438...

doi.org

Genetics identifies obesity as a shared risk factor for co-occurring multiple long-term conditions - Communications Medicine

Mounier et al., analyse whether obesity, measured by body mass index (BMI) affects the shared genetic risk between 71 long-term health conditions including diabetes, heart disease and arthritis. Healt...

163

Luke Pilling @lcpilling.bsky.social · 29/01/2026

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...

youtube.com

Healthy Ageing and Chronic Disease research at the University of Exeter

YouTube video by University of Exeter

010

Reposted by Luke Pilling

Ian Sudbery @iansudbery.bsky.social · 23/01/2026

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 🧵

41421

Luke Pilling @lcpilling.bsky.social · 28/01/2026

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...

github.com

GitHub - lcpilling/ukbrapR: R package for working in the UK Biobank Research Analysis Platform (RAP)

R package for working in the UK Biobank Research Analysis Platform (RAP) - lcpilling/ukbrapR

120

Luke Pilling @lcpilling.bsky.social · 23/01/2026

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

000

Luke Pilling @lcpilling.bsky.social · 19/01/2026

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

My 526 GitHub contributions (mostly commits) over the last 12 months. Never on Saturdays, rarely on Sundays, except where I have personal nerd projects apparently

030

Reposted by Luke Pilling

Nik Baya @nbaya.bsky.social · 06/01/2026

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...

25027

Reposted by Luke Pilling

Laura Winchester @winchesterl.bsky.social · 12/01/2026

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.

131

Luke Pilling @lcpilling.bsky.social · 18/12/2025

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 🤩

media.tenor.com

Opening Presents Eric Cartman GIF

ALT: Opening Presents Eric Cartman GIF

001

Luke Pilling @lcpilling.bsky.social · 08/12/2025

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

010

Luke Pilling @lcpilling.bsky.social · 05/12/2025

(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)

001

Luke Pilling @lcpilling.bsky.social · 27/11/2025

Really enjoyed a joint meeting earlier between Exeter rare genetics team and @celsoneto.bsky.social and colleagues from the Human Genomics without Racism (HUGERA) project 🧬 Really complex area. Looking forward to considering how to better consider genetic diversity and self-identified ethnicity!

220

Reposted by Luke Pilling

Arno Van Hootegem 🌱 @arnovanhootegem.bsky.social · 13/11/2025

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

fertstert.org

Embryo selection based on polygenic prediction risks reinforcing social inequality

The rise of companies offering embryo selection based on genetic testing has triggered heated debate about ethical acceptability, as well as the accuracy and scientific validity of these techniques. W...

13918

Reposted by Luke Pilling

loic-yengo.bsky.social @loic-yengo.bsky.social · 12/11/2025

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....

nature.com

Estimation and mapping of the missing heritability of human phenotypes - Nature

WGS data were used from 347,630 individuals with European ancestry in the UK Biobank to obtain high-precision estimates of coding and non-coding rare variant heritability for 34 co...

821870

Reposted by Luke Pilling

Luke Pilling @lcpilling.bsky.social · 16/09/2025

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...

View of the River Exe running through the Quay in sunny Exeter.

066

Reposted by Luke Pilling

Albert Vilella, PhD. @albertvilella.bsky.social · 08/10/2025

@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.

ebi.ac.uk

EMBL-EBI and Google DeepMind renew partnership and release update to AlphaFold Database

Deeper collaboration between EMBL-EBI and Google DeepMind brings updates to the AlphaFold Database.

1207

Luke Pilling @lcpilling.bsky.social · 03/10/2025

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! 😵‍💫

Cartoon by the excellent Allison Horst (https://allisonhorst.com/git-github). Includes a quote from Hadley Wickham and Jenny Bryan that says “Using a Git commit is like using anchors and other protection when climbing…if you make a mistake you can’t fall past the previous commit. Commits are also helpful to others, because they show your journey, not just the destination.” On the right, two little monsters climb a cliff face. Their ropes are secured by several anchors, each labeled “Commit”. Three monsters on the ground support the climbers.

2212

Reposted by Luke Pilling

Jane Masoli @janemasoli.bsky.social · 24/09/2025

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

052

Luke Pilling @lcpilling.bsky.social · 16/09/2025

066

Luke Pilling @lcpilling.bsky.social · 03/09/2025

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

Cumulative incidence of haemochromatosis-associated clinical outcomes in males HFE C282Y homozygotes in UK Biobank, stratified into two groups based on transferrin saturation polygenic score (highest vs. lowest quintile). This shows clearly that even within the high-risk C282Y group, likelihood of adverse consequences is influenced by non-HFE genetic variants that also impact iron

030

Luke Pilling @lcpilling.bsky.social · 29/08/2025

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...

nature.com

Our Future Health: a unique global resource for discovery and translational research - Nature Medicine

Our Future Health has recruited more than 1 million participants in the UK, with biobanked bloods, making it the largest consented cohort of its type in the world.

0101

Luke Pilling @lcpilling.bsky.social · 22/08/2025

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 👏

094

Luke Pilling @lcpilling.bsky.social · 21/08/2025

My latest data hobby: my Spotify listening history! Had no idea until recently that you could download a history over ever song you've ever listened to. Cue some fun R hours! Some surprising trends and top picks. Dominated by my work listening rather than "favourites" lcpilling.github.io/spotify

140

Luke Pilling @lcpilling.bsky.social · 09/07/2025

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

Professor Jane Masoli introducing how secondary care electronic healthcare records data (Epic) can be used for research

031

Luke Pilling @lcpilling.bsky.social · 09/07/2025

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)

131

Reposted by Luke Pilling

Zoltán Kutalik @zkutalik.bsky.social · 27/06/2025

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

088

Luke Pilling @lcpilling.bsky.social · 27/06/2025

Is there anything as grossly unappealing yet probably quite important as mandatory H&S training?

000

Luke Pilling @lcpilling.bsky.social · 16/06/2025

At the UK Human Functional Genomics Initiative @uk-fgx.bsky.social symposium @exeter.ac.uk, currently listening to intro from @jonathanmill.bsky.social Picked up my first fidget spinner from BioFAIR @biofair.bsky.social which sounds a really cool initiative for open data and methods 🌟

My new fidget spinner. I am holding it in the auditorium

010

Luke Pilling @lcpilling.bsky.social · 12/06/2025

So nice to be able to return a postive review. Great work authors, absolutely loved it ❤️

040

Luke Pilling @lcpilling.bsky.social · 05/06/2025

Just submitted responses to reviews on a grant we have in submission. Not sure how I will get anything done in the next few weeks with all my fingers crossed 🤞

040

Luke Pilling @lcpilling.bsky.social · 14/05/2025

First time my donated blood has made it to Swindon! 🤩 Love getting these e-mails of where my blood was used 🩸 Easiest way to save a life. Give blood! 🌟 www.blood.co.uk

Google maps showing the route from Exeter to Swindon via Bristol

030