Luke Pilling

Love a good DAG ❤️

Professor Jane Masoli introducing how secondary care electronic healthcare records data (Epic) can be used for research

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

A very inspiring talk! So many challenges to overcome... especially with the age demographic and rural challenges in the South West. Looking forward to the SDE sessions Jane

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?

My new fidget spinner. I am holding it in the auditorium

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 🤞

Thanks Dominic! Glad it's helpful. Any comments, suggestions, bugs, just let me know 🤩

Wonderful paper. Congratulations

Exciting! Looking forward to the outputs

Google maps showing the route from Exeter to Swindon via Bristol

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

Mary Mancini speaking on her experience as a patient with comorbodities

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

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

Follow our main GitHub and social media accounts of co-investigators to find out more!
github.com/GEMINI-multi...

@janemasoli.bsky.social
@exeterage.bsky.social

GitHub - GEMINI-multimorbidity/partialLDSC: R package to estimate partial genetic correlations R package to estimate partial genetic correlations - GEMINI-multimorbidity/partialLDSC

We published the method for the above paper as an R package {partialLDSC}:
github.com/GEMINI-multi...

Genetics identifies obesity as a shared risk factor for co-occurring multiple long-term conditions Background Multimorbidity, the co-occurrence of multiple long-term conditions (LTCs), is an increasingly important clinical problem, but often little is known about the underlying causes. Observationa...

Pre-print for our follow on study on the role of obesity in multimorbidity, using genetics and partial genetic correlation approaches:
doi.org/10.1101/2024...

Genome wide association study (GWAS) summary statistics for the 72 conditions with a significant heritable (genetic) component:
doi.org/10.5281/zeno...

GitHub - GEMINI-multimorbidity/GEMINI-LTC-code-list-Public: Diagnostic codes for the long-term conditions (LTCs) used in the GEMINI project. Diagnostic codes for the long-term conditions (LTCs) used in the GEMINI project. - GitHub - GEMINI-multimorbidity/GEMINI-LTC-code-list-Public: Diagnostic codes for the long-term conditions (LTCs) ...

Harmonized, curated, and interoperable diagnostic codes for 84 conditions:
github.com/GEMINI-multi...

Interactive results browser (heatmaps, tables for download, etc):
gemini-multimorbidity.shinyapps.io/atlas/

Professor Tim Frayling presenting the GEMINI slides

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:

Professor Jane Masoli on stage

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

Liver iron levels are associated with HFE-hemochromatosis genotype, diet, adiposity, and disease in the UK Biobank Introduction: HFE genetic variants, especially C282Y homozygosity (C282Y+/+), can increase systemic iron and cause hemochromatosis, though expression varies. Excess iron can lead to liver disease/canc...

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

DRAGEN is a pipeline for variant calling from Illumina whole genome sequencing. Before they only provided this is many annoying pVCF files. In this update they now provide BGEN (and Plink PGEN) files by chromosome, which makes it substantially quicker/easier to query

This field? I didn't know that. biobank.ctsu.ox.ac.uk/crystal/fiel...