Tim Frayling

@timfrayling.bsky.social

Human genetics, type 2 diabetes and obesity in today's environment. Cycling uphill. Team science. New shoots in Geneva & France, long roots in the UK & Exeter. https://www.unige.ch/medecine/gede/en/research-groups/timothy-frayling

Claude is helping me learn French . French native speakers would you get the grammar differences between these 2 phrases ?: "Hier matin, Sophie s'est coupée profondément en épluchant des légumes. Avant le déjeuner, ma fille s'est lavé soigneusement les mains.

yep. seems like we need to try, but also that most components of disease are on a continuous scale. Put people into groups based on those scales and they will look different, but are the separations real ? doesn't rule out the importance of stratification to get more bang for intervention buck

Frank Harrell@f2harrell.bsky.social · 6mo ago

#Statistics thought of the day: If you think you can find new disease subtypes by empirically clustering patients, think again: www.fharrell.com/post/cluster... #StatsSky

great work & just as interesting is use of this approach to estimate the shared genetics between pairs of conditions whilst "subtracting" the effects of obesity. Interesting that T2D-Osteoarthritis genetic link estimated as 100% about obesity, other pairs clearly have strong non obesity components

Luke Pilling@lcpilling.bsky.social · 6mo ago

Massive GEMINI team effort (ex.ac.uk/gemini) Can't name them all. Key co-authors: Ninon Mounier, Beth Voller, @janemasoli.bsky.social, João Delgado, Frank Dudbridge, @timfrayling.bsky.social, Jack Bowden Data/code: github.com/GEMINI-multi... Press release: news.exeter.ac.uk/faculty-of-h...

The Exeter team seem to be the Alex Honnold of human genetics. Most sane people on seeing the challenge of meta analysing >1billion variants & 10,000s aggregates across ~100% of the genome would opt for the safety rope of the exome. Not these guys.

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...

Interesting development in ”non-personalised Medicine” from UK: the government will reduce the current lower threshold at which Soft drink industry levy applies from 5g of total sugars per 100ml to 4.5g & will remove the current exemption for milk-based drinks with added sugar

Rarely in the entire history of science, has QC been a topic of such passion, importance and impact. If only the French and Americans had adopted such rigor when they messed up the design of that multi billion $ telescope because one was using the metric system, the other the imperial system.

Kartik Chundru@chundru.bsky.social · 9mo ago

New paper on everyone’s favourite topic, QC! We show why you should do genotype-level QC on your WGS data www.biorxiv.org/content/10.1... Very real quotes about this paper - “The most exciting, mind-blowing paper of the year!” “On a par with Fisher 1918” “I read it every night. Just so beautiful”

I’m learning more and more about the extremely impressive Swiss personalised Health Network and the trusted research environment infrastructure that enables researchers to safely access & Analyse data from multiple hospitals in Switzerland www.sib.swiss/news/sphn-is...

SPHN is a trusted partner between hospitals and private companies

A new collaboration framework allows private partners to transform sensitive Swiss health data into actionable insights while preserving patient privacy. The first pilot project examines risk factors ...

sib.swiss