lilimilani.bsky.social
Lili Milani
@lilimilani.bsky.social
300 followers 110 following 22 posts
Head of Estonian Biobank & Professor of Pharmacogenomics at the Estonian Genome Centre, University of Tartu.
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Reposted by Lili Milani
opentargets.org
Open Targets @opentargets.org · 20d
The Open Targets Platform autumn release is out! 🍂

We have ingested the full dataset of over 13 million enhancer-gene regulatory interactions in the human genome across 1,458 DNase-seq experiments covering 369 cell types and tissues from the ENCODE-rE2G model

blog.opentargets.org/open-targets...
Open Targets Platform 25.09 has been released!
The September 25 release includes enhancer-gene data predicted by ENCODE-rE2G, molQTL credible sets for targets, new options for the variant structural viewer, and a number of data updates from GWAS C...
blog.opentargets.org
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lilimilani.bsky.social
Lili Milani @lilimilani.bsky.social · 20d
Maybe! Need to look into it :)
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Lili Milani @lilimilani.bsky.social · 25d
See you all next year for the 25th #GeneForum and some Estonian music! #plusskoor
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Lili Milani @lilimilani.bsky.social · 25d
And so many other excellent speakers like @srubinacci.bsky.social @stevesphd.bsky.social @hilarycmartin.bsky.social & many more who made it an awesome conference - now called mini-ASHG (by Hilary Martin) and we loved it 🥰
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Reposted by Lili Milani
alondra.bsky.social
Alondra Nelson @alondra.bsky.social · 27d
🧵 The summer of 2025 has been AI's "cruel summer"—wrongful deaths, dangerous therapy chatbots, medical misinformation, facial recognition failures. These aren't isolated glitches but predictable harms from systems deployed without adequate oversight. www.science.org/doi/10.1126/...
An ELSI for AI: Learning from genetics to govern algorithms
In the United States, the summer of 2025 will be remembered as artificial intelligence’s (AI’s) cruel summer—a season when the unheeded risks and dangers of AI became undeniably clear. Recent months h...
www.science.org
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Lili Milani @lilimilani.bsky.social · 28d
2nd day opened with a BEAUTIFUL talk by @nickywhiffin.bsky.social about ReNu variants playing such a huge role in developmental disorders despite the few bases..!
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Lili Milani @lilimilani.bsky.social · 29d
So excited about this year’s Gene Forum in Tartu being kicked off now by our keynote speaker @eimearekenny.bsky.social 🤩
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Lili Milani @lilimilani.bsky.social · Sep 4
Huge congrats @klehto.bsky.social on this achievement!! Her work has already enriched the @estbiobank.bsky.social and will continue to do so! 💙🖤🤍
erc.europa.eu
European Research Council (ERC) @erc.europa.eu · Sep 4
Are adult attention deficit hyperactivity disorder (ADHD) features truly the same as childhood ADHD?

Kelli Letho, a new ERC Starting Grantee at the University of Tartu will dissect the causal mechanisms of adult ADHD features

More 👉 buff.ly/nci5eve

#ERCStG #FontierResearch @klehto.bsky.social
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Reposted by Lili Milani
rjhfmstr.bsky.social
Robin Hofmeister @rjhfmstr.bsky.social · Aug 6
🚨 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!
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lilimilani.bsky.social
Lili Milani @lilimilani.bsky.social · Jul 3
Huge thanks to Maris Alver for leading this important work, and for the rigorous and thoughtful data analysis together with Silva Kasela, Laura Birgit Luitva and Kristi Krebs!
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Lili Milani @lilimilani.bsky.social · Jul 3
3. Polygenic and pharmacogenomic predictors contributed independent and additive effects to dose variation.

This work underscores the potential of integrated genetic approaches to support more personalized and data-informed prescription of medicines.
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Lili Milani @lilimilani.bsky.social · Jul 3
2. GWAS picks known PGx associations independent of the underlying trait PGSs.
• Strong peaks for metoprolol (CYP2D6) and warfarin (VKORC1, CYP2C9)
• PGx genes enriched among GWAS top signals for statins.
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Lili Milani @lilimilani.bsky.social · Jul 3
🧬 Key insights:

1. PGSs for complex traits reveal both biological and healthcare-related influences on medication dosing
• High genetic predisposition -> higher dose
• BMI PGS linked with dose variation across several drug classes
• EA PGS linked to lower statin and higher antidepressant doses
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Lili Milani @lilimilani.bsky.social · Jul 3
Using prescription data from 212,000 @estbiobank.bsky.social participants, we examined how polygenic scores #PGSs and #pharmacogenomic variants relate to variation in medication dosing for metoprolol, warfarin, statins, antidepressants, and antipsychotics.
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Lili Milani @lilimilani.bsky.social · Jul 3
📢 (on more!) New study from our team in the Journal of Translational Medicine:

Polygenic and pharmacogenomic contributions to medication dosing: a real-world longitudinal biobank study

🔗 tinyurl.com/25u3a5j7

(thread below) 👇
Polygenic and pharmacogenomic contributions to medication dosing: a real-world longitudinal biobank study - Journal of Translational Medicine
Background Understanding interindividual variability in medication dosing is central to precision medicine. Despite significant pharmacogenomic (PGx) insights into key biological pathways influencing ...
translational-medicine.biomedcentral.com
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Reposted by Lili Milani
hannamariakariis.bsky.social
Hanna Maria Kariis @hannamariakariis.bsky.social · Jul 2
🎉(1/4) Excited to share that our latest paper is now published!

We investigated genetic factors linked to antidepressant side effects in 13,000 individuals from the @estbiobank.bsky.social , leveraging data from questionnaires and clinical notes using NLP.
www.nature.com/articles/s41...
Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank - European Journal of Human Genetics
European Journal of Human Genetics - Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank
www.nature.com
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Reposted by Lili Milani
tuuliel.bsky.social
Tuuli Lappalainen @tuuliel.bsky.social · May 5
New preprint! My (now former) postdoc @kvastad.bsky.social led this integration of GWAS and spatial transcriptomics (ST) data to identify tissue structures with enrichment of disease-implicated genes = likely causal drivers of disease biology.
www.biorxiv.org/content/10.1...
Spatial transcriptomics and genetically implicated genes identify putative causal tissue structures for complex traits
Spatially resolved transcriptomics is transforming our understanding of cellular and molecular diversity of tissues. Here, to identify tissue structures that are enriched for putatively causal disease...
www.biorxiv.org
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Reposted by Lili Milani
erictopol.bsky.social
Eric Topol @erictopol.bsky.social · Apr 16
Our ability to predict a person's risk of heart disease keeps getting better, even among those previously considered at low risk by traditional clinical criteria
@naturemedicine.bsky.social by my team @scripps.edu
www.nature.com/articles/s41...
Meta-prediction of coronary artery disease risk - Nature Medicine
A meta-prediction framework integrating polygenic risk scores spanning multiple conditions and nongenetic factors, such as laboratory tests and baseline diagnoses, had superior performance in predicti...
www.nature.com
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Reposted by Lili Milani
mikeinouye.bsky.social
Mike Inouye @mikeinouye.bsky.social · Apr 9
This study is a big deal. Is it going to be the one that kicks down the PRS door? Maybe. And that’s saying something.

Assessment of a Polygenic Risk Score in Screening for Prostate Cancer www.nejm.org/doi/full/10....
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lilimilani.bsky.social
Lili Milani @lilimilani.bsky.social · Apr 7
Excited to share our recently published overview of the @estbiobank.bsky.social 🧬
We highlight the unique features of the biobank and the conducted scientific research it has enabled, including the many recall studies that have been carried out over the years!
www.nature.com/articles/s41...
The Estonian Biobank’s journey from biobanking to personalized medicine - Nature Communications
Large-scale biobanks have become a font of data that have led to discoveries across many fields of research. Here, the authors provide an overview of the Estonian Biobank, highlighting its value for r...
www.nature.com
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Lili Milani @lilimilani.bsky.social · Apr 4
Take-home messages:
🔹Drug purchase data is reliable for deriving medication doses at scale.
🔹Genetic associations capture biological effects and the nature of EHR data.
🔹Both #PGx and polygenic liability should be integrated to advance #precisionmedicine.
lilimilani.bsky.social
Lili Milani @lilimilani.bsky.social · Apr 4
Key findings:
🔹Polygenic liability to complex traits and PGx variation contribute to dose variability.
🔹PGS for BMI and the indicator trait associated with statins, metoprolol, and warfarin.
🔹GWAS confirmed known signals for metoprolol (CYP2D6), and warfarin (VKORC1, CYP2C9).
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Lili Milani @lilimilani.bsky.social · Apr 4
We combined three layers of genetic analyses:
🧬 Polygenic scores for complex traits
🧬 GWAS
🧬 Enrichment testing for known #pharmacogenes
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Lili Milani @lilimilani.bsky.social · Apr 4
We applied different strategies to derive dose metrics for cardiovascular and psychiatric medications (statins, metoprolol, warfarin, antidepressants and antipsychotics):
🔹 Daily dose per purchase
🔹 Median dose across purchases
🔹 Maximum purchased dose
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Lili Milani @lilimilani.bsky.social · Apr 4
💡Can we use real world drug purchase data to study the genetics of medication dosing?

We explored this by analyzing 20 years of digital drug dispensing data linked to the @ESTbiobank which hosts 212,000 genotyped participants. 🧵

📄 doi.org/10.1101/2025...
Investigating the genetic factors of medication dosing using biobank-linked drug purchase data
Despite significant pharmacogenomic (PGx) insights into key biological pathways influencing drug response, the polygenic contribution to dose variability and the potential of electronic health records...
doi.org
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