Cristian Pattaro

Statistics reach a 'crisis point': nations struggle with a critical lack of data Some researchers are sounding the alarm over the official data sets that track crucial aspects of life in the United States, Argentina, the United Kingdom and India.

matter of (dis)trust and control

Statistics reach a 'crisis point': nations struggle with a critical lack of data www.nature.com/articles/d41...

I build a feed for european grant funding that's updated daily and (IMO) far more transparent then the official EU fundign website: michelnivard.github.io/eu-grants-fe... (inspired by the NIH equivalent @sashagusevposts.bsky.social build yesterday)

Here's our R package for interacting with WGS derived GWAS summary statistics with many rare variants (from e.g. UKB or AofUs). It uses duckdb underneath so it's fast. Includes some helpful tie ins to Open Targets / Encode Screen / Ensembl APIs for annotation. weinstocklab.github.io/gwasplot/ind...

On the importance of longitudinal studies

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’

Learning lifetime disease liability reveals and removes genetic confounding in electronic health records Electronic health records (EHRs) have become the cornerstone of population-scale genetic studies1, but factors including patterns of healthcare use shape which and how diagnoses are recorded, leading ...

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

Haplomics: A Snakemake pipeline for haplotype-based association analysis in multi-omics studies Summary Genome-wide association studies (GWAS) generated thousands of loci associated with complex traits and diseases. However, to characterize of the pleiotropic, molecular and population genetic bo...

To finish with #haplomics a #snakemake pipeline to run haplotype analysis at any locus , also available on #github
www.medrxiv.org/content/10.1...

Clinical and Metabolic Signatures of FAM47E–SHROOM3 Haplotypes in a General Population Sample Genome-wide association studies (GWAS) identified a locus on chromosome 4q21.1, spanning the Family With Sequence Similarity 47 Member E (FAM47E), Starch Binding Domain 1 (STBD1), Coiled-Coil Domain C...

Followed by a deep investigation of the #SHROOM3 locus through WES-based #haplotypes
www.kireports.org/article/S246...

Systematic mediation and interaction analyses of kidney function genetic loci in a general population study Chronic kidney disease (CKD) is a complex disease affecting >10% of the global population, with large between- and within-continent variability reflecting major environmental determinants. To identify...

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.

Effect of Climate Change on Kidney Stones and Kidney Disease

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

Interference of urinary albumin-to-creatinine ratio measurement by glycosuria: clinical implications when using SGLT-2 inhibitors

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...

Clinical and Analytical Impact of Moving from Jaffe to Enzymatic Serum Creatinine Methodology AbstractBackground. Identification and monitoring of chronic kidney disease (CKD) requires accurate quantification of serum creatinine. The poor specificit

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...

Changing from the CKD-EPI to the EKFC creatinine equation to estimate glomerular filtration rate in adults in a Northern European health system ABSTRACTBackground. The European Kidney Function Consortium (EKFC) 2021 equation to estimate GFR performs as well or better than the CKD-EPI 2009 equation

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

Assessment of adverse effects attributed to statin therapy in product labels: a meta-analysis of double-blind randomised controlled trials Adverse event data from blinded randomised trials do not support causal relationships between statin therapy and most of the conditions (including cognitive impairment, depression, sleep disturbance, ...

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...