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...

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...

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

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...

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)

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!

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 👏

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

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

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

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 🌟

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

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 🤞

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

Last session but certainly not least at multimorbidity MLTC symposium has reflections from stakeholders including one of our amazing public collaborators @marymanc.bsky.social This is my first project with such integrated patient perspectives and it has transformed the work. I'm really enjoying it!

Next from GEMINI is Dr Olivia Murrin giving a deep dive on observational (from primary care) and genetic relationships between lung and musculoskeletal conditions @exeterage.bsky.social Follow us here and see our GitHub for resources and updates bsky.app/profile/lcpi...

Siblings are not always 50% genetically similar! The difference may vary from 40 to 60%! Our preprint uses this difference via sibling regression to estimate "assumption-free heritability" of socio-cognitive traits /1 @eivindy.bsky.social @rafaelahlskog.bsky.social @renemottus.bsky.social

Overview of our genetics of multimorbidity (GEMINI) project by @timfrayling.bsky.social at the MLTC symposium We are studying 72 common long-term chronic conditions with a heritable (genetic) component. Our seminal paper is now published (doi.org/10.1016/j.eb...) and our public resources are below:

Having a great time at a multimorbidity symposium in Birmingham this week. Many interesting talks on care pathways, drug targets, etc Pictured is the amazing @janemasoli.bsky.social talking about the important work in the clinical community of practice @exeterage.bsky.social @exeter.ac.uk

Investigation of the UK Biobank MRI liver iron in the context of haemochromatosis (iron overload) led by @janicelatkins.bsky.social and Mitch Lucas 🌟 Factors such as obesity and red meat consumption raised liver iron 🩸Diagnosed (i.e., treated) HFE C282Y homozygotes had low levels (yay!)

Recycling grant applications is tough: it's difficult to read the feedback, it's difficult to find motivation. But in academia resilience and efficiency are key Great workshop yesterday with the mantra "Reduce, Reuse, Recycle" ♻️ and how to maximise efficiency and effectiveness! Thanks Lauren et al.

The most famous heuristic in mapping gwas snps to genes is "it's usually the closest gene". But only slightly less well-known is this: consider the colocalized phenotypes. That is, a genetic variant seldom disrupts exactly one phenotype. What else does tugging on that thread do?

Biggest commitment to a 3 second joke I've ever seen

With the UK Biobank providing BGEN WGS files (yay 🤩) I have updated my {ukbrapR} R package 📦 E.g to load WGS calls directly into R vars <- data.frame(chr=c(6,19), pos=c(26092913,44908684)) genos <- ukbrapR::extract_variants(vars, source="dragen") This takes 15 seconds! github.com/lcpilling/uk...