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...
🧬 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
GEMINI: Genetic Evaluation of Multimorbidity towards INdividualisation of Interventions - GEMINI
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
Luke Pilling
James Fasham
James Fasham
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
Luke Pilling
James Fasham
So anyone got any good holiday plans whilst access to both UK Biobank and Our Future Health are suspended?
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!
Is there anything more satisfying than overcoming an analytic/coding challenge before it has got too late? #sohappy #goodnight
