Cristian Pattaro

📣Preprint alert - a tricky one, as there are no significant results (and we all know null-results are hard to publish)
Do PCSK9 levels affect survival in breast cancer patients?
We tried to replicate findings in cell lines and mouse model using 3 Mendelian Randomization approaches, but failed.

The Race-Correction Debates — Progress, Tensions, and Future Directions | NEJM Many race-adjusted clinical tools have recently been scrutinized and replaced with race-neutral versions — efforts that have faced obstacles and generated contentious debate about the use of race i...

Towards race-free predictive formulas: a path that should not be abandoned

www.nejm.org/doi/full/10....

A tale of two sociogenomics: shall the twain ever meet? How does the social environment ‘get under the skin’ to influence the behavior of individual animals and humans and the activity of their genomes? And, conversely, how do genetic variants influence so...

reflections on #sociogenomics

#popgen

www.cell.com/trends/genet...

Very nice application of factor analysis #stats

Inouye Lab - Research Background Technological advances have continued to drive the study of biology towards the statistical and computational sciences. We are now able to differentiate and quantify biomolecules at levels ...

Not unrelated... I've recently updated the Research page on our lab's website (first time in nearly 10 years!) www.inouyelab.org/home/research

and we are now recruiting PhD students for autumn 2026 @dphpc.bsky.social @cam.ac.uk - feel free to get in touch!

Want to do disruptive science? Include more rookie researchers Papers from research teams with a substantial number of beginners are highly disruptive and innovative, study shows.

keywords for innovative science: rookie & diversity
www.nature.com/articles/d41...

the Trials within Cohort (TwiC) design:
www.jclinepi.com/article/S089...

SAFE-LD: A novel method for the estimation of linkage disequilibrium from summary statistics https://www.biorxiv.org/content/10.1101/2025.09.29.679154v1

Why scientists should take more coffee breaks Grad students should make time for casual conversations with peers, this Ph.D. student writes

Why scientists should take more coffee breaks
www.science.org/content/arti...

🧬💥 Do the genetics that make you develop a disease also help you survive it? Not much.

Our new study in Nature Genetics including 9 disease and 7 biobanks shows:

• Susceptibility variants ≠ survival
• PRSs for onset weak at predicting progression
• Lifespan PRS predicts survival better

Current landscape of plasma proteomics from technical innovations to biological insights and biomarker discovery - Communications Chemistry Plasma proteome profiling has surged as a promising avenue for biomarker discovery, yet comprehensive platform comparisons remain scarce. Here, the authors evaluate eight proteomics platforms, revealing key differences and complementary strengths, providing crucial insights for researchers into coverage trade-offs and implicating biomarker discovery and clinical applications.

A pretty comprehensive comparison of most actual #proteomics platforms:

Current landscape of plasma proteomics from technical innovations to biological insights and biomarker discovery

www.nature.com/articles/s42...

Gaza's healthocide: medical societies must not stay silent The catastrophic humanitarian crisis in Gaza, with the apparent deliberate targeting of health-care infrastructure and personnel, has highlighted a profound challenge to the global medical community. ...

"ignoring political issues that affect health means ignoring real barriers to care"
www.thelancet.com/journals/lan...

Beneath the surface of the sum When genetic interactions matter and when they don't

I wrote about gene-gene interactions (epistasis) and the implications for heritability, trait definitions, natural selection, and therapeutic interventions. Biology is clearly full of causal interactions, so why don't we see them in the data? A 🧵:

Image of a fluorescently labeled adult mouse kidney showing AQP2 staining of collecting ducts and connecting segment in green and alpha SMA staining of the arterial tree in magenta. The collecting ducts look like squiggly branches.

For this #FluorescenceFriday, a gorgeous image of an adult mouse kidney labeled with AQP2 and alpha SMA antibodies. AQP2 (green) marks the collecting duct and distal connecting segment while SMA marks the arterial tree. Courtesy of talented postdoc Sarah McLarnon.

#OTD 1876 Edith Abbott b (d 28 Jul 1957) ASA Fellow 1945. One of the 1st F deans in the US, she pioneered statistical methods applied to policy development for welfare, education & protections for immigrants, working women & children

The Health Data Science Centre at
@humantechnopole.bsky.social is looking for an outstanding Postdoc to work on Generative Machine Learning for biomedical data.
If you are passionate about ML and real-world health data, this is the position for you!
info: michela.massi@fht.org
tinyurl.com/5n8yy7xp

Acetaminophen Use in Pregnancy and Neurodevelopmental Outcomes

1. e.g. pmc.ncbi.nlm.nih.gov/articles/PMC...

2. jamanetwork.com/journals/jam...

For expert advice on using tylenol during pregnancy:
www.acog.org/clinical/cli...

In modern datasets, very large sample sizes combined with slight differences in information across SNPs (eg die to imputation) can mislead fine mapping algorithms, and in turn colocalisation.

Exploring the omnigenic architecture of selected complex traits Core genes identified for ulcerative colitis, coronary artery disease, and other traits by a multi-modal graph machine-learning pipeline are expressed in disease-relevant tissues. Core genes demonstra...

Cool method to exploring the #omnigenic architecture of complex traits
www.cell.com/ajhg/fulltex...

The rare-to-common disease journey: a winding road to new therapies The study of genetic variants that cause rare diseases has been a central strategy of genetic research for the last century, but the contribution of r…

We often try to put rare genetic diseases & common diseases into context wrt some genetic finding. Here, a helpful review on how rare variants may alter common disease risk & viceversa, how common disease genetic background influence rare/genetic diseases
www.sciencedirect.com/science/arti...

The use of two-sample methods for Mendelian randomization analyses on single large datasets AbstractBackground. With genome-wide association data for many exposures and outcomes now available from large biobanks, one-sample Mendelian randomization

Complementary reading:
academic.oup.com/ije/article/...

Bias due to participant overlap in two‐sample Mendelian randomization Mendelian randomization analyses are often performed using summarized data. The causal estimate from a one-sample analysis (in which data are taken from a single data source) with weak instrumental v...

Reviving an often forgotten topic: #Bias due to participant overlap in two-sample #MendelianRandomization
onlinelibrary.wiley.com/doi/10.1002/...

We are excited to share GPN-Star, a cost-effective, biologically grounded genomic language modeling framework that achieves state-of-the-art performance across a wide range of variant effect prediction tasks relevant to human genetics.
www.biorxiv.org/content/10.1...
(1/n)

A Genetic Atlas of the Mammary Gland 🧬🤱🐭

New research from @geula.bsky.social & team shows shifts in gene activity across pregnancy → lactation → weaning.

This new 'atlas' provides new avenues for studying lactation disorders and breast cancer.

academic.oup.com/nar/article/...

After publishing its founding paper, #KidneyGenAfrica is now ready for its 1st Training Workshop in #CKD #genetic #epidemiology, dedicated to researchers based in Africa, on Jan 25-30, 2026, in South Africa.

More details here
www.kidneygenafrica.org/kidneygenafr...

www.linkedin.com/feed/update/...

Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects - Nature Genetics Genome-wide analyses for 7,266 traits leveraging data from several genetic ancestry groups in UK Biobank identify new associations and enhance resources for interpreting risk variants across diverse p...

A project many years in the process, we’re pleased to present our work on multi-ancestry meta-analysis across a boatload of traits in the UK Biobank: www.nature.com/articles/s41...

and a preprint with some more info on the #Spectra infrastructure and #SpectriPy : doi.org/10.31219/osf...

📣3-year bioinformatics position open @ our Institute to work w outstanding @jorainer.bsky.social on #metabolomics data data data #rstats

Couldn't agree more. The #R real superpower

🚀 Book in progress: Spatial Data Visualization with tmap

A guide to creating thematic maps in R with the tmap package.
Covers everything from loading data to interactive and animated maps, with reproducible code.

Read online: tmap.geocompx.org

#rstats #rspatial #geocompx #gischat #maps