Cristian Pattaro

Given GWAS were largely EUR-driven, would also between-ancestry differences being largely by marked environmental effects?

Data are there. Methods are there. And the missing heritability issue is nearly over. All in this beautifully-written piece

new genomic annotation resource by Christopher E Gillies et al:

Variant Classification Using Proteomics‐Informed Large Language Models Increases Power of Rare Variant Association Studies and Enhances Target Discovery

onlinelibrary.wiley.com/doi/10.1002/...

w github repo github.com/rgcgithub/es...

“Promiscuous dichotomisation is yet another way of torturing the data to produce false confessions of which we must be eternally wary.”

#statistics #P-hacking #stats

A genome-wide analysis of the shared genetic risk architecture of complex neurological and psychiatric disorders Nature Neuroscience - Smeland et al. demonstrate greater genetic overlap between neurological and psychiatric disorders than previously recognized, along with diverse neurobiological associations....

Excited to share our cross-disorder GWAS analysis of neurological and psychiatric disorders (~1 M cases), now out in @natneuro.nature.com! We show more extensive genetic pleiotropy than previously recognized, supporting a more unified view of these disorders
rdcu.be/ePmwD

Estimation and mapping of the missing heritability of human phenotypes - Nature WGS data were used from 347,630 individuals with European ancestry in the UK Biobank to obtain high-precision estimates of coding and non-coding rare variant heritability for 34 co...

First time on Bsky and first big announcement!

I am excited to announce that our new study explaining the missing heritability of many phenotypes using WGS data from ~347,000 UK Biobank participants has just been published in @Nature.

Our manuscript is here: www.nature.com/articles/s41....

On “Confirmatory” Methodological Research in Statistics and Related Fields Empirical substantive research, such as in the life or social sciences, is commonly categorized into the two modes exploratory and confirmatory, both of which are essential to scientific progress. Th...

On “Confirmatory” Methodological Research in Statistics and Related Fields. F. J. D. Lange, Juliane C. Wilcke, Sabine Hoffmann, Moritz Herrmann, Anne-Laure Boulesteix. Statistics in Medicine. onlinelibrary.wiley.com/doi/10.1002/...

Is It Time to Consider Population-Based Urine Dipstick Screening for Early Detection of Kidney Disease? ca. 2025 from @kireports.bsky.social @saynanorouzi.bsky.social
#Nephpearls #KidneyWk #NephSky

👉 www.kireports.org/article/S246...

I am deeply honored to have been awarded the European Hormone Medal 2026!

Congratulations Christina!

Galton calling for data sharing in 1901 - does anyone know of earlier examples?

🚨 Job Market Alert 🚨

The Department of Economics of the University of Bologna invites applications for a fixed-term Assistant Professor position
**any field**
starting AY 2026/27.

📅 Apply by Nov 10

💼 6-year contract, low teaching load, no Italian required.

Info: econjobmarket.org/positions/11...

Glad to see this! I’ve long preferred a single robust well thought-out model that includes terms for things we know we don’t know such as interactions and nonlinearity of predictor effects. Bayesian models use skeptical priors for complexities we hope we don’t need. #StatsSky

The Complex Relationship of Genetic Ancestry With Self‐Reported Race/Ethnicity Race and ethnicity are demographic constructs used to characterize individuals in biomedical research, and in particular to assess health disparities. Their use in medicine and research has been disc....

Further evidence that race and ethnicity are social constructs: at the same level of genetic admixture, self-assigned race/ethnicity varies by ancestry, with age also playing a role in the self-classification process #popgen
onlinelibrary.wiley.com/doi/10.1002/...

#rstats #dataviz
Over 30 years ago, when I was doing graphics with #SAS, I imagined traveling in color space and computing meaningful palettes. I ranted that:

Every time you are forced to say “#008B8B” or “cyan4”
a puppy dies somewhere

Another great paper and neat analysis from Andrea's group 👏

1/7 New BMI GWAS out! Using Estonian Biobank (n=204,747) and replication in FinnGen, we show that even in Europe you can still find region-specific biology if you zoom into population-tailored sumstats. Big thanks to co-author @kanwalbatool.bsky.social :)

In a new "Mechanisms of Kidney Disease" article in #ASNJASN, authors explore population studies and the genetic architecture of kidney diseases, highlighting a spectrum of risk. Read more: kidney.pub/JASN0893

@dannygale.bsky.social

Briefly the two measures must already be perfectly transformed, there be no floor or ceiling effects, and difference must be unrelated to baseline. Details at hbiostat.org/bbr/change #Statistics #StatsSky

5 YEARS of HGG Advances! Mike, Jessica, Sara, and so many others have done such a fantastic job in shaping and expanding the journal.

Please consider submitting your work in genetics/genomics with us!

"a polygenic score, by design, is acausal. It is a correlation accumulator"

"dependence is the modal human condition"

Thx for writing this. So deeply human.

Agree. This struck me. Also thinking to the work reviewers have put on that.

Skin Research and Technology: Vol 31, No 10 Click on the title to browse this issue

Massive #retraction of #Mendelianrandomization papers @ Skin Res Technol, >30 papers retracted in a single issue

Unclear biological rationale supporting valid application of MR to the research question 😶

Decision by journal+publisher. Authors disagree

onlinelibrary.wiley.com/toc/16000846...

We're hiring! My team at @nygenome.org is looking for a statistical genetics postdoc to decipher functional architecture of complex diseases from cutting-edge CRISPR+scRNA-seq data, with @nevillesanjana.bsky.social lab. Happy to meet at #ASHG25, apply here
jobs.silkroad.com/NYGenome/Car...

📣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