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Posts by Simone Rubinacci

It is a pleasure to work with Maarja. Congratulations on this well-deserved MSCA Postdoctoral Fellowship!

1 month ago 5 1 0 0

The impact of low-frequency genetic variants on serum protein levels www.biorxiv.org/content/10.64898/2026.03...

1 month ago 6 5 0 0
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Gene-environment equivalence: The fundamental principle of Mendelian randomization In this Perspective, George Davey Smith and colleagues outline how and why gene-environment equivalence, the fundamental principle of Mendelian Randomization (MR), must be properly applied and critica...

Failure to understand that the fundamental principle of Mendelian randomization (MR) is of gene-environment equivalence contributes to the flood of nonsense MR papers that are appearing; Shah Ebrahim, Gib Hemani and I explain why in this short commentary. journals.plos.org/plosmedicine...

1 month ago 40 29 1 1
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In our new preprint, we develop a genetic proxy for hepatic AGT synthesis inhibition, enabling human genetic validation of a promising emerging antihypertensive target.

AGT is an emerging target of liver-delivered RNA-based antihypertensive therapeutics👇

1 month ago 4 1 1 0

Nice to see this out! Great work by Kiran Kumar and Sebastian Zöllner!

1 month ago 7 3 0 0
From DNA microarrays to somatic mosaicism in population cohorts Nature Reviews Genetics, Published online: 24 February 2026; doi:10.1038/s41576-026-00948-0Chikashi Terao recalls a paper by Loh et al., which introduced a highly sensitive algorithm to detect low-fraction chromosomal mosaicism from SNP array data, enabling large-scale mapping of clonal haematopoiesis.

New online! From DNA microarrays to somatic mosaicism in population cohorts

1 month ago 5 1 0 0
Portrait of Simone Rubinacci, PhD, smiling and seated, wearing a black top. Blue background. To the right is a quote:
"What makes FIMM special is how seamlessly everything is integrated. Biologists, clinicians, and data scientists work closely together, not just in theory but in practice. On top of that, access to large-scale national data enables us to ask questions that simply couldn’t be explored elsewhere."
Below the quote:
Simone Rubinacci, PhD
FIMM-EMBL Group Leader since 2024
Logos of the University of Helsinki and FIMM are at the top right.

Portrait of Simone Rubinacci, PhD, smiling and seated, wearing a black top. Blue background. To the right is a quote: "What makes FIMM special is how seamlessly everything is integrated. Biologists, clinicians, and data scientists work closely together, not just in theory but in practice. On top of that, access to large-scale national data enables us to ask questions that simply couldn’t be explored elsewhere." Below the quote: Simone Rubinacci, PhD FIMM-EMBL Group Leader since 2024 Logos of the University of Helsinki and FIMM are at the top right.

We are recruiting 1-2 early-stage Group Leaders in Data Science and AI for Molecular & Health Data!
If you dream of analysing population-scale datasets with cutting-edge tech, Finland is calling!
Apply here by 15 March:
jobs.helsinki.fi/job/Helsinki...
@helsinki.fi @hilife-helsinki.bsky.social

2 months ago 3 4 0 0

Cool, but looking at the results, it does not actually seem better than others: going from KGP phase 1 to 3, the compres. ratio improves by 2.4x, while others, e.g. XSI improves by 6.4x.
Need a benchmark on large-scale WGS data (I tried, out of curiosity, but I gave up as it requires too much RAM)

3 months ago 3 0 0 0
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🚨 Our parent-of-origin study is out in Nature! 🧬
Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss.
🔗 www.nature.com/articles/s41...

Highlights below!

8 months ago 117 55 2 5

MetaGLIMPSE: Meta Imputation of Low Coverage Sequencing Data for Modern and Ancient Genomes www.biorxiv.org/content/10.1101/2025.06....

9 months ago 2 1 0 1