Are you interested in understanding how social and structural determinants of health influence estimates of genetic risk? Looking for figures for teaching these concepts?
Check out our work on considerations for modeling them together, led by Sara Cromer and Dave Conti with @prsmethods.bsky.social
Great to see this work out, led by Jon Rosen and co-supervised Karen Mohlke @klmohlke.bsky.social!
Connecting to some recent threads here:
An illustration of a man in the sky above a town with email addresses around him, with text: When I lost my university email, my identity as a scientist took an unexpected hit
"Losing my institutional email address felt like losing a small but vital piece of the scientist I had become." #ScienceWorkingLife https://scim.ag/3OGpS67
Great piece! "I began to see lectures not as performance, but as an experiment that allowed me to test, adjust, and learn alongside my students."
One of the best explanations of 2-sample MR using simple statistical notation. And a new method, outperforming previous ones in term of power and type I error. #stats #geneticepi
A Little Book of R for Multivariate Analysis by Avril Coghlan
#RStats
https://bigbookofr.com/chapters/statistics.html#a-little-book-of-r-for-multivariate-analysis
RWE, the ‘illusion of the real’
Our new preprint “Learning lifetime disease liability reveals and removes genetic confounding in electronic health records” is now online! Link to paper: This work is led by my postdoc Yazheng Di and it’s our first project at @bsse.ethz.ch :) medrxiv.org/cgi/content/...
Thread 1/n
Well-deserved celebration in a charmy Leiden bistrot w Prof Peters
To finish with #haplomics a #snakemake pipeline to run haplotype analysis at any locus , also available on #github
www.medrxiv.org/content/10.1...
Followed by a deep investigation of the #SHROOM3 locus through WES-based #haplotypes
www.kireports.org/article/S246...
His massive work include a mediation and interaction analysis of CKD loci in a single population study
journals.plos.org/plosone/arti...
Ph.D. defense time! @ LUMC, our former student @dariushghasemi.bsky.social successfully defended his thesis, where he investigated several methods to interpret genetic loci for #CKD
I've also heard "my associational study is only to see whether someone should do a causal study later." The best way to create evidence for whether one should do a, potentially better, causal study later, is to do everything that that hypothetical future causal study would do.
Our editorial about climate change...yes, it's coming and it's not stopping...and its effect on kidney stones, AKI, CKD...(while USG remains in denial: promoting COAL!) in @kireports.bsky.social www.sciencedirect.com/science/arti... @theisn.org @nyunephro.bsky.social @thecookingdoctor.bsky.social
❓shoud eGFR equations include a correction for glucose levels? should kidney function association studies control for glucose levels? how would such a confouder play e.g. vs T2D?
▶️kidney function measurements in people not affected by #CKD should prioritize enzymatic creatinine measurements
Measurement error in nephrology /2:
- glucose (both serum and urine) affects serum creatinine and urinary creatinine levels
- consequences affect #CKD staging by #eGFR and #uACR
www.sciencedirect.com/science/arti...
Measurement error in nephrology /1:
- at low creatinine levels, Jaffé >> enzymatic creatinine
- glucose is associated with Jaffé - Enzymatic difference
#ckd
academic.oup.com/jalm/article...
Not all kidney function estimating equations work the same
(also, curious distribution of the EKFC eGFR in this paper)
academic.oup.com/ndt/article/...
#CKD #EKFC
✅ The UK Government has today granted access to half a million UK Biobank participants' coded GP data for health research.
This change will dramatically increase the power of UK Biobank's dataset to advance the diagnosis, treatment and management of conditions handled by GPs.
🚨Eurac MSCA Postdoctoral Fellowship scouting has started - get in touch if you'd like to submit a proposal with me 📝
www.eurac.edu/en/research-...
#MSCA
Evidence of absence or absence of evidence?
www.thelancet.com/journals/lan...
"The switch" - a nice story by Valentina Bergonzi on our research on #desmoplakin & #ECG arrhythmias traits
🖱️ www.eurac.edu/en/magazine/...
Preprint with the results of genome-wide eQTL analyses across 43,301 blood samples from the eQTLGen Consortium is now online! A major collaborative effort- many thanks to everyone involved, especially @robertwarmerdam.bsky.social, @ludefranke.bsky.social, and all eQTLGen collaborators!👇
Dichotomizing continuous outcomes in RCTs can be wasteful, costly, and unethical
Registration is now open!
See: csama2026.bioconductor.eu/registration...
Excited to share our review in #KIReports – a real milestone for me!
#CKD at the Crossroads: From Failure to Future Therapies
1️⃣ Current & emerging CKD therapies
2️⃣ Why proven treatments are still underused
3️⃣ Practical checklist to help clinicians implement kidney protective therapies in practice
Thanks for writing this! It is going to be very helpful
“Scientific integrity is essential to a functioning democracy.”
Our friends at @ucs.org explain how authoritarianism chips away at truth piece by piece—attacking science, silencing experts, and weaponizing propaganda—and lay out what scientists can do to defend democracy, starting now. ⬇️
