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Emil Uffelmann

@euffelmann.bsky.social
100 followers 192 following 64 posts

Statistical genetics

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Reposted by Emil Uffelmann
Michel Nivard @michelnivard.bsky.social · 21/09/2026
This is quite useful for genetics, but dependent on whether any of the inputs are genetics specific, might also be useful for psychologists and social scientists. Go from nagelkerke’s R2 to the R2 on the liability scale ( a latent variable that underlies your binary outcome)
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Emil Uffelmann @euffelmann.bsky.social · 21/09/2026
New preprint 🧵 Nagelkerke's R² is widely used to report polygenic score performance for binary traits, but it depends on prevalence and case fraction, so you can't compare it across diseases or studies. We derive a simple conversion to the liability scale. 👇
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Jonathan Pritchard @jkpritch.bsky.social · 09/08/2026
Must-know numbers in human genetics -- As many of you know, I'm writing a free online textbook in human genetics. In this blog post I cover a key skill for genome scientists from that book: how to use mental math to figure out key genome properties. jkpritchard.substack.com/p/on-fermi-p...
jkpritchard.substack.com
On Fermi Problems in Human Genetics
and some very useful numbers about human genomes to get you started!
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PBF Comics @pbfcomics.bsky.social · 20/07/2026
“What a beautiful universe, hon" says a telescope as gazes upon an aurora borealis. “It really is”, responds the telescope's partner, who it turns out is not a telescope, but a microscope. Hands full of algae, she wades waist deep in a disgusting swamp, amazed by the heavenly microscopic life all around them.
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Joni Coleman @jonicoleman.bsky.social · 24/06/2026
I'm at #BGA2026 #BGA26(?) this week. Out of practice with this skeeting thing, so we'll see how we go...! Introductory remarks from the local hosts here in sunny Amsterdam, to be followed by a plenary from the excellent Wouter Peyrot @behaviorgenetic.bsky.social
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FinnGen @finngen.bsky.social · 03/06/2026
We are pleased to announce the release of FinnGen DF13 results! 🧬 While the number of participants remains unchanged, DF13 incorporates updated health register data, increasing the number of cases across most disease endpoints. Browsing & download instructions here: www.finngen.fi/en/access_re...
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Reposted by Emil Uffelmann
Chris Simms @chrisnsimms.bsky.social · 02/06/2026
It a HUGE study looking at the genetics of around 2.8 million people. The work is published as a preprint on medRxiv, so hasn't yet been peer reviewed. www.medrxiv.org/content/10.1...
medrxiv.org
Genomic analyses reveal new insights into Alzheimer’s disease
Alzheimer’s disease (AD) is the most common cause of dementia, with global case numbers projected to reach 153 million in 2050[1][1]. AD is highly heritable, with twin-based heritability estimates of ...
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Chris Simms @chrisnsimms.bsky.social · 02/06/2026
And here's another, this one for @newscientist.com, on the biggest genome-wide association study yet of Alzheimer’s. It has identified 48 new gene locations associated with the condition, which could help us find drug targets to prevent it. 🧪 #health #medicine www.newscientist.com/article/2528...
newscientist.com
Huge study of Alzheimer’s genetics identifies new drug targets
Almost 50 more genes have been flagged as being linked to Alzheimer’s, along with changes in activity in crucial cells that disappear as dementia progresses
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Emil Uffelmann @euffelmann.bsky.social · 26/05/2026
🧬 FUMA v2.0.0 is out, updated by Tanya Phung @ CTG Lab New FLAMES module (effector gene prioritization), new QTLs Analysis module, and expanded xQTL datasets in SNP2GENE fuma.ctglab.nl
fuma.ctglab.nl
Functional Mapping and Annotation of Genome-wide association studies
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Reposted by Emil Uffelmann
Sacha Epskamp @sachaepskamp.bsky.social · 18/04/2026
Exam prep for a research and statistics exam in 2026! sachaepskamp.com/PL2132_games...
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Uku Vainik @ukuvainik.bsky.social · 24/10/2025
I know that Galton called out for sharing data in 1901
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Emil Uffelmann @euffelmann.bsky.social · 14/10/2025
🚨 The preprint for our GWAS of Alzheimer’s disease (AD) is out Preprint: medrxiv.org/content/10.1... 🧵
medrxiv.org
Genomic analyses reveal new insights into Alzheimer's disease
Alzheimer's disease (AD) is the most common cause of dementia, with global case numbers projected to reach 153 million in 2050. AD is highly heritable, with twin-based heritability estimates of 60-80%...
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Reposted by Emil Uffelmann
Danielle @daniposthu.bsky.social · 14/10/2025
Proud that the third GWAS for Alzheimer's dementia from the PGC-ALZ working group was just posted online! Huge amounts of work, and what a great collaboration! Check out our exciting findings below 👇 @pgcgenetics.bsky.social #ctglab #alzheimer #dementia #GWAS
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Emil Uffelmann @euffelmann.bsky.social · 14/10/2025
🚨 The preprint for our GWAS of Alzheimer’s disease (AD) is out Preprint: medrxiv.org/content/10.1... 🧵
medrxiv.org
Genomic analyses reveal new insights into Alzheimer's disease
Alzheimer's disease (AD) is the most common cause of dementia, with global case numbers projected to reach 153 million in 2050. AD is highly heritable, with twin-based heritability estimates of 60-80%...
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Emil Uffelmann @euffelmann.bsky.social · 27/09/2025
Our new paper is out, in which we developed an approach to transform Polygenic Scores (PGSs) into disorder probabilities (i.e., the absolute lifetime disorder risk). Below a thread 👇 open access link: rdcu.be/eIjvC
rdcu.be
Estimating disorder probability based on polygenic prediction using the BPC approach
Nature Communications - Here the authors present a method to transform polygenic scores into disorder probabilities using only GWAS summary statistics, genotype data and a prior - no tuning sample...
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Michel Nivard @michelnivard.bsky.social · 19/09/2025
The US as viewed by latenight comedians in Europe (it’s 20 secs of Dutch, the rest is English. We are so worried about you all we’re specifically trying to reach you through our latenight I guess…)
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Our World in Data @ourworldindata.org · 11/09/2025
Technology can change the world in ways that are unimaginable until they happen. Switching on an electric light would have been unimaginable for our medieval ancestors. In their childhood, our grandparents would have struggled to imagine a world connected by smartphones and the Internet.
This image presents a long-term timeline of technology from the distant past to the present and into the future. The timeline is divided into several sections. 

At the top, there's a linear progression highlighting significant technological advancements, starting from around 1800. Key milestones include the invention of the steam locomotive, the first vaccine, and the discovery of DNA. The timeline shows notable events like the Wright brothers' flight in 1903, the beginning of the Internet in 1991, and the 21st century’s focus on artificial intelligence and space exploration.

The timeline also includes a spiral that represents the vast expanse of human history, where each turn symbolizes 200,000 years. This section mentions major milestones like the use of tools, the control of fire, and the emergence of Homo sapiens.

The image is labeled "A long-term timeline of technology" and is attributed to Our World in Data, created by Max Roser, licensed under CC-BY.
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Jonathan Sebat @sebatlab.bsky.social · 16/07/2025
As we have learned, genes have dose-dependent effects on psychiatric traits. DOSAGE, it turns out, is a key element that helps unravel mechanisms of gene → pathway → cell type → brain region → diagnosis. Here we developed a framework to characterize cellular processes that mediate genetic effects.
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Sasha Gusev @sashagusevposts.bsky.social · 10/08/2025
I wrote about how genetic risk works in the context of embryo selection and how people often think about it all wrong. A short 🧵:
open.substack.com
What we talk about when we talk about risk
How embryo selection exploits our flawed intuitions about risk
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Emil Uffelmann @euffelmann.bsky.social · 06/08/2025
📣 New paper published in @natcomms.nature.com‬, where we explored sex differences in local genetic correlations, local heritabilities, and magnitude of effect sizes in quantitative traits. link: rdcu.be/ezuZd 1/7
rdcu.be
Local genetic sex differences in quantitative traits
Nature Communications - Analysing 157 traits, this study finds widespread local genetic sex differences masked at the genome-wide level. Using LAVA, it tests for sex-specific heritability, genetic...
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Jonathan Pritchard @jkpritch.bsky.social · 29/07/2025
Thanks! This is amazing! So the term 'Manhattan Plot' is not originally a GWAS term at all. Screenshotting the image here from a 1994 book on nuclear physics, for others who may be interested:
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Tabea Schoeler @tabeasch.bsky.social · 08/07/2025
🚨New preprint is out! How do genetic effects on complex traits change with age? In this work, we compare different approaches to obtain age-varying genetic effects, and show how design and modeling choices can impact the conclusions we draw. shorturl.at/17snd A thread 🧵👇
shorturl.at
Design and model choices shape inference of age-varying genetic effects on complex traits
Understanding how genetic influences on complex traits change with age is a fundamental question in genetic epidemiology. Both cross-sectional (between-subject) and longitudinal (within-subject) appro...
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Emil Uffelmann @euffelmann.bsky.social · 19/06/2025
A brilliant article on cancer screening by Siddhartha Mukherjee www.newyorker.com/magazine/202...
newyorker.com
The Catch in Catching Cancer Early
New blood tests promise to detect malignancies before they’ve spread. But proving that these tests actually improve outcomes remains a stubborn challenge.
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Mike Inouye @mikeinouye.bsky.social · 05/06/2025
📣 Latest from the lab: Performance of deep-learning-based approaches to improve polygenic scores www.nature.com/articles/s41... Its thought deep learning will substantially improve PGS but the reality is MANY have tried but no/little gain has been seen so far. Here we report our negative results.
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Carl Zimmer @carlzimmer.com · 04/06/2025
“I would like to cure brain cancer. I think that's not particularly controversial.” Be that as it may, the NIH terminated that scientist's grant. Here's a huge survey of the 2,500 grants that NIH has killed or delayed...so far. Gift link: nyti.ms/43Jz1yJ
A chart showing cancelled NIH grants
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Retraction Watch @retractionwatch.com · 04/06/2025
Science-integrity project will root out bad medical papers ‘and tell everyone’ Thrilled to announce this new $900,000 project headed by @jamesheathers.bsky.social
nature.com
Science-integrity project will root out bad medical papers ‘and tell everyone’
Group behind Retraction Watch aims to pinpoint the most influential flawed health data.
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Danielle @daniposthu.bsky.social · 24/05/2025
#ctglab is hiring! We have #vacancies! 2 PhD & 2 postdoc positions, in #statistical #genetics and/or #bioinformatics - if you like GWAS, method development and linking with biology - check these out 👇 werkenbij.vu.nl/vacatures/tw... werkenbij.vu.nl/vacatures/po... werkenbij.vu.nl/vacatures/po...
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Financial Times @financialtimes.com · 19/05/2025
Regeneron buys 23andMe out of bankruptcy www.ft.com/content/362bcad4-8f4a-42…
ft.com
Regeneron buys 23andMe out of bankruptcy
Drugmaker’s takeover comes less than two months after start-up filed for protection
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Michael Hobbes @michaelhobbes.bsky.social · 21/04/2025
Personally I think it's totally defensible for the head of a meteorology department to say, "you can't work here unless you believe in climate change." That department is going to end up with zero conservatives in it but it's not the department that needs to change!
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Simon Fisher @profsimonfisher.bsky.social · 19/04/2025
I’m interested in how we can better communicate genetic science, when cool soundbites may confuse more than they clarify. An example: “You share 98.8% of your genes with a chimpanzee!” Is this true? What does it really mean? Let’s unpack this oft-quoted pearl of wisdom in a 🧵 all about sharing. 🧪1/n
Two black-and-white headshot photographs presented side by side: on the left that of a human (Charles Darwin) and on the right that of a chimpanzee. In both cases their eyes are gazing intently at the camera.
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Eric Topol @erictopol.bsky.social · 16/04/2025
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...
nature.com
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...
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Sjoerd van Alten @sjoerdalten.bsky.social · 16/04/2025
So happy to finally see this paper out in @natcomms.nature.com. rdcu.be/ehQsd “Correcting for volunteer bias in GWAS increases SNP effect sizes and heritability estimates”. A thread on our findings!
rdcu.be
Correcting for volunteer bias in GWAS increases SNP effect sizes and heritability estimates
Nature Communications - Genetic studies may be biased due to volunteer-based biobanks. Using UK Biobank, the authors apply inverse probability weighting based on UK Census data, finding that...
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Eric Topol @erictopol.bsky.social · 14/04/2025
Most people haven’t heard of this test, which is available in the US. It accurately predicts Alzheimer’s (not just if there’s a risk, but when). It is modulated by exercise and likely other lifestyle factors. Here’s (almost) everything we know about it erictopol.substack.com/p/the-breakt...
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Renzo Mancuso @mancusorenzo.bsky.social · 07/04/2025
I am so excited to share our review on microglial heterogeneity @natureneuro.bsky.social! It was a fantastic effort by the lab, led by @c9laura72.bsky.social and Alma Mohebiany. We provide a critical view on the plethora of microglial cell states in health and disease. www.nature.com/articles/s41...
nature.com
Microglia heterogeneity, modeling and cell-state annotation in development and neurodegeneration - Nature Neuroscience
Microglia have key roles in CNS development and neurodegeneration. Here, the authors provide an overview of microglia heterogeneity, cell-state annotation and model systems.
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Mike Drucker @mikedrucker.bsky.social · 07/04/2025
CEOs upset about Trump’s tariffs sound like mob bosses shouting “I thought we had a deal!” at the Joker.
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Emil Uffelmann @euffelmann.bsky.social · 02/04/2025
www.nytimes.com/interactive/...
nytimes.com
Opinion | I.V.F., Gene Selection and Embryo Screening: Is This the Future of Making Babies? (Gift Article)
Advances in genetic testing and artificial intelligence are changing what’s possible for those undergoing I.V.F. Are we ready for the future of fertility?
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Mike Inouye @mikeinouye.bsky.social · 31/03/2025
Effect of Disclosing a Polygenic Risk Score for Coronary Heart Disease on Adverse Cardiovascular Events www.ahajournals.org/doi/10.1161/...
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Shai Carmi @shaicarmi.bsky.social · 29/03/2025
Interesting: "Linear combinations of independently optimised scores [across populations] consistently outperformed current jointly optimised multi-source methods, while being substantially more computationally efficient" By Oliver Pain www.medrxiv.org/content/10.1...
medrxiv.org
Leveraging Global Genetics Resources to Enhance Polygenic Prediction Across Ancestrally Diverse Populations
Introduction: Genome-wide association studies (GWAS) from multiple ancestral populations are increasingly available, offering opportunities to improve the accuracy and equity of polygenic scores (PGS)...
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Abdel Abdellaoui @dr-appie.bsky.social · 26/03/2025
In every civilization, people end up sorted into levels of socio-economic status (SES). We explore the history, present, and future of scientific research on the complicated relationship between SES and DNA in @naturehumbehav.bsky.social💰🧬🎓 Link: rdcu.be/efacK Thread below 👇🏽
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👻 Spooky Elle 🎃🧙🏼‍♀️🍄 @hecatestorch.bsky.social · 21/03/2025
Just found out NIH has officially canceled our grant, a longitudinal study of Alzheimer's disease in Black Americans. I cannot even put into words how angry I am. The truth is they are canceling it because it has Black in the title. That's it, there is no other reason to do this.
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Emil Uffelmann @euffelmann.bsky.social · 13/03/2025
Why do journal submission pages look like they’re from 2005
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Colette Delawalla, PhD @cdelawalla.bsky.social · 10/02/2025
Get in dorks, we're going protesting! STAND UP FOR SCIENCE WITH US ON MARCH 7TH, 2025 WASHINGTON DC AND EVERY STATE CAPITOL Because science is for everyone! Find us at www.standupforscience2025.org #standupforscience2025 #scienceforall #sciencenotsilence
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Marijn Schipper @mjschipper.bsky.social · 11/02/2025
Incredibly proud to see our latest work out in Nature Genetics: www.nature.com/articles/s41... Here we share our FLAMES framework, which predicts the effector genes in GWAS loci with state-of-the-art precision🔥 Special thanks to @daniposthu.bsky.social A full thread describing findings below!
rdcu.be
Prioritizing effector genes at trait-associated loci using multimodal evidence
Nature Genetics - FLAMES is a machine learning approach combining variant fine-mapping, SNP-to-gene annotations and convergence-based gene prioritization scores to identify candidate effector genes...
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Danielle @daniposthu.bsky.social · 11/02/2025
Just out from #ctglab by @mjschipper.bsky.social - our new tool FLAMES 🔥🔥, to identify the most likely causal genes in GWAS loci, using machine learning techniques, thoroughly benchmarked and freely available Paper: rdcu.be/d9iQP Code: github.com/Marijn-Schip...
rdcu.be
Prioritizing effector genes at trait-associated loci using multimodal evidence
Nature Genetics - FLAMES is a machine learning approach combining variant fine-mapping, SNP-to-gene annotations and convergence-based gene prioritization scores to identify candidate effector genes...
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Emil Uffelmann @euffelmann.bsky.social · 10/02/2025
FLAMES - a new tool to predict effector genes at GWAS loci www.nature.com/articles/s41...
nature.com
Prioritizing effector genes at trait-associated loci using multimodal evidence - Nature Genetics
FLAMES is a machine learning approach combining variant fine-mapping, SNP-to-gene annotations and convergence-based gene prioritization scores to identify candidate effector genes at genome-wide assoc...
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Jonathan Pritchard @jkpritch.bsky.social · 26/01/2025
Modern GWAS can identify 1000s of significant hits but it can be hard to turn this into biological insight. What key cellular functions link genetic variation to disease? I'm very excited to present our new work combining associations and Perturb-seq to build interpretable causal graphs! A 🧵
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Emil Uffelmann @euffelmann.bsky.social · 29/01/2025
Great interview with Dorret Boomsma, who has recently joined our lab www.geneticsnetworkamsterdam.org/blog/2025/01...
geneticsnetworkamsterdam.org
GENE Amsterdam Interview Session 6: Dorret Boomsma - Genetics Network Amsterdam
Interviewed by: Jana Hirzinger and Anaïs Thijssen Looking back, what inspired you to focus on twin genetics? Was it something you set out to do from the beginning? No, not […]
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Jonathan Pritchard @jkpritch.bsky.social · 27/01/2025
I posted a couple days ago about our new paper on building causal graphs from genetic associations + Perturb-seq. Here I want to expand on the value of using DIRECTIONAL information contained in LoF burden tests.🧵 [work led by @minetoota.bsky.social ] bsky.app/profile/jkpr...
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Charlotte Garden @charlottegarden.bsky.social · 22/01/2025
An embarrassment of riches
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