PhD. Genetic epidemiologist
Researching mechanisms of chronic long-term conditions, ageing, and drugs @ University of Exeter, UK
❤Rstats. UCU rep✊. Views my own
He/him. 🏳️🌈ally. 🇬🇧🇪🇺
📷 ShowYourStripes.info
W: https://github.com/lcpilling
Fantastic talk by @denizturkmen.bsky.social at #ESHG2026 on her study of oral corticosteroids: cumulative dose, adverse outcomes, and genetic modifiers of risk
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
🧬 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
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!
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...
Is there anything more satisfying than overcoming an analytic/coding challenge before it has got too late? #sohappy #goodnight
So anyone got any good holiday plans whilst access to both UK Biobank and Our Future Health are suspended?
🧬 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
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!
