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...

Interested in calculating polygenic scores in the All Of Us workbench? Like those from @pgscatalog.bsky.social? Take a look at our new documentation for how to run pgsc_calc in the cloud environment: pgsc-calc.readthedocs.io/en/latest/ho.... Very much work-in-progress, optimisations incoming!

Honour to be invited to give a talk by @zkutalik.bsky.social at the University of Lausanne last week 🇨🇭 Thanks for the opportunity to present our work and meet your amazing team 🤩 I presented on genetics and multimorbidity. It was recorded if you would like to watch: rec.unil.ch/videos/dcb-e...

Shocking news about the mass layoffs at the US NIH. The ramifications for medical science are profound. In addition to the human impact of so many jobs lost. Solidarity to my fiends and colleagues there

NotebookLM by Google is an absolute game changer. I am using it to summarise my own (chaotic) notes, previous [unsuccessful] grants, reviewer comments (ideas to improve etc), paper PDFs ("where did I read XXX??"), so much. Worth checking out.

What's your record for length of time a paper is waiting to receive reviewer comments? We submitted last July and are still waiting for 1st round! Unrelated question... how many journal articles do you review per month? Me it's max 2. There just isn't time for more. Get several requests *per day*!

New paper from my team describing a new prognostic tool in prostate cancer! doi.org/10.1002/1878...

A great opportunity to join us in Exeter as a Lecturer in Health Data Science: tinyurl.com/2sy7w2y5. Please get in touch if you're interested!

So frustrating to still need separate login details for each journal in "Manuscript Central"... How has this not been streamlined yet? I end up resetting my password and (re)entering my details every time

The first major output from the MRC funded GEMINI sites.exeter.ac.uk/gemini/Multi... consortium. We bring together genetic and primary care data from multiple sources to compare 2546 pairs of traits based on 72 long term chronic heritable conditions: www.sciencedirect.com/science/arti...

Another day, another review for a superficial two-sample MR paper. These are wasiting an enormous amount of editor/review time. I rarely accept unless within my (very specific) area of special interest. The two below commentaries are timely and worth a read (by authors and editors alike!)

Next week the DEMON biomarkers working group are hosting Dr Sofia Toniolo who will be talking about the opportunities and pitfalls from digital and plasma biomarkers in Alzheimer’s Disease. 📅 Thursday 6th Feb 10am GMT. All welcome - PM for details.

Added functions for quick genetic analysis in UK Biobank RAP R package {ukbrapR} v0.3.0 - extract_variants() to pull Bulk genotypes straight into R (imputed or WGS) - create_pgs() to create a polygenic score (pull Bulk genotypes, create score, and load straight into R) github.com/lcpilling/uk...

Quick way to get extreme p-values in R is to return them as strings! log_pvalue = log(2) + pnorm(abs(z),lower.tail=FALSE,log.p=TRUE) log10_pvalue = log_pvalue/log(10) ## from LN to log10 mantissa = 10^(log10_pvalue %% 1) exponent = log10_pvalue %/% 1 sprintf("%1.2fe%d",mantissa,exponent)

🚨PLEASE SHARE: Senior reseach post: come and work at the IEU with Gib Hemani and @mendelrandom.bsky.social on Mendelian randomization, become my co-worker :) – research posts with closing date 5th February 2025.

Minor-ish update to {ukbrapR} to v0.2.9 to fix 2 bugs and improve behaviour of some internal functions github.com/lcpilling/uk...

My blood 🩸 made it all the way to University Hospital, Birmingham where it helped to save or improve someone's life Love getting these e-mails. Consider signing up to donate blood, if you don't already www.blood.co.uk @givebloodnhs.bsky.social

On submitting papers in December ☃️ Two schools of thought: 1) submit it before going on leave, to have it off your desk 2) no-one will review it before January anyway, so might as well wait What do you reckon?

jobs.exeter.ac.uk/hrpr_webrecr... Interested in data management? Want a permanent position working in beautiful Devon and work collaboratively to support the work of lots of genomics team? Apply!!

Great talk on how ChatGPT x Mendelian randomisation (but really any open data) leads to mass scientific production void of thought. It's not a new phenomena, this happened to art. I just reread: "The Work of Art in the Age of Mechanical Reproduction" which is absolutely prescient wrt us now.

Daniel Williamson at the UK Biobank scientific conference explaining his study of MRI-estimed cortical brain iron and incident dementia risk @ukbiobank.bsky.social #UKBSC24