🧬 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?

a man in a suit and tie is standing on a beach near the ocean .

Alt: Mr Bean standing on the beach waiting for access to cohort data

media.tenor.com

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

a man with long hair and a beard is sitting in the driver 's seat of a truck with his eyes closed .

Alt: Nick Cage from Con Air looks satisified as a cool breeze blows his hair

media.tenor.com

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...

GEMINI

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

github.com

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

Psychiatric Genomics Consortium (PGC)@pgcgenetics.bsky.social · 4mo ago

Age at diagnosis is gaining attention in autism research. AaD is heritable, with genetic factors influencing whether someone is diagnosed earlier or later. The genetic correlation is only moderate, suggesting differing genetic profiles. Commentary: doi.org/10.1038/d415... #autism #genetics

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...

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

github.com

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

Harry Wright@hiwwright.bsky.social · 6mo ago

Excited to share my first preprint on federated conditional analysis of rare single variant and aggregate association tests across six genetically-inferred ancestry groups in All of Us and UK Biobank doi.org/10.64898/202...

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...

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...

doi.org

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...

Healthy Ageing and Chronic Disease research at the University of Exeter

YouTube video by University of Exeter

youtube.com

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! 🔖

Dylan Williams@dylwil.bsky.social · 7mo ago

I'm starting a thread on misunderstandings about the role of APOE in Alzheimer's disease / dementia, from the POV of epidemiology / statistical genetics. I will add to this sporadically over time... #endalz #episky #medsky

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 🤩

Opening Presents Eric Cartman GIF

ALT: Opening Presents Eric Cartman GIF

media.tenor.com

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

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...

fertstert.org