Emil Uffelmann
@euffelmann.bsky.social
PhD student in statistical genetics at Vrije Universiteit Amsterdam
Reposted by Emil Uffelmann
I know that Galton called out for sharing data in 1901
October 24, 2025 at 11:21 AM
I know that Galton called out for sharing data in 1901
Reposted by Emil Uffelmann
🚨 The preprint for our GWAS of Alzheimer’s disease (AD) is out
Preprint: medrxiv.org/content/10.1...
🧵
Preprint: medrxiv.org/content/10.1...
🧵
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%...
medrxiv.org
October 14, 2025 at 12:09 AM
🚨 The preprint for our GWAS of Alzheimer’s disease (AD) is out
Preprint: medrxiv.org/content/10.1...
🧵
Preprint: medrxiv.org/content/10.1...
🧵
Reposted by Emil Uffelmann
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
🚨 The preprint for our GWAS of Alzheimer’s disease (AD) is out
Preprint: medrxiv.org/content/10.1...
🧵
Preprint: medrxiv.org/content/10.1...
🧵
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%...
medrxiv.org
October 14, 2025 at 7:24 AM
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
🚨 The preprint for our GWAS of Alzheimer’s disease (AD) is out
Preprint: medrxiv.org/content/10.1...
🧵
Preprint: medrxiv.org/content/10.1...
🧵
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%...
medrxiv.org
October 14, 2025 at 12:09 AM
🚨 The preprint for our GWAS of Alzheimer’s disease (AD) is out
Preprint: medrxiv.org/content/10.1...
🧵
Preprint: medrxiv.org/content/10.1...
🧵
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
Below a thread 👇
open access link: rdcu.be/eIjvC
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...
rdcu.be
September 27, 2025 at 2:47 AM
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
Below a thread 👇
open access link: rdcu.be/eIjvC
Reposted by Emil Uffelmann
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…)
September 19, 2025 at 7:06 AM
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…)
Reposted by Emil Uffelmann
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.
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.
September 11, 2025 at 1:25 PM
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.
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.
Reposted by Emil Uffelmann
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.
Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects https://www.medrxiv.org/content/10.1101/2025.07.11.25331381v1
July 16, 2025 at 9:23 PM
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.
Reposted by Emil Uffelmann
I wrote about how genetic risk works in the context of embryo selection and how people often think about it all wrong. A short 🧵:
What we talk about when we talk about risk
How embryo selection exploits our flawed intuitions about risk
open.substack.com
August 10, 2025 at 7:08 PM
I wrote about how genetic risk works in the context of embryo selection and how people often think about it all wrong. A short 🧵:
📣 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
link: rdcu.be/ezuZd
1/7
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...
rdcu.be
August 6, 2025 at 12:51 PM
📣 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
link: rdcu.be/ezuZd
1/7
Reposted by Emil Uffelmann
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:
Screenshotting the image here from a 1994 book on nuclear physics, for others who may be interested:
July 29, 2025 at 6:18 PM
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:
Screenshotting the image here from a 1994 book on nuclear physics, for others who may be interested:
Reposted by Emil Uffelmann
neal.fun/deep-sea/
Have a good night
Have a good night
The Deep Sea
Scroll down the deep sea in this interactive page.
neal.fun
July 30, 2025 at 5:47 AM
neal.fun/deep-sea/
Have a good night
Have a good night
Reposted by Emil Uffelmann
🚨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 🧵👇
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 🧵👇
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...
shorturl.at
July 8, 2025 at 12:47 PM
🚨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 🧵👇
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 🧵👇
Reposted by Emil Uffelmann
📣 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.
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.
June 5, 2025 at 1:37 PM
📣 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.
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.
Reposted by Emil Uffelmann
“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
June 4, 2025 at 2:30 PM
“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
Reposted by Emil Uffelmann
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
Thrilled to announce this new $900,000 project headed by @jamesheathers.bsky.social
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.
www.nature.com
June 4, 2025 at 2:31 AM
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
Thrilled to announce this new $900,000 project headed by @jamesheathers.bsky.social
Reposted by Emil Uffelmann
#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...
werkenbij.vu.nl/vacatures/tw...
werkenbij.vu.nl/vacatures/po...
werkenbij.vu.nl/vacatures/po...
May 24, 2025 at 3:02 PM
#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...
werkenbij.vu.nl/vacatures/tw...
werkenbij.vu.nl/vacatures/po...
werkenbij.vu.nl/vacatures/po...
Reposted by Emil Uffelmann
Regeneron buys 23andMe out of bankruptcy
https://www.ft.com/content/362bcad4-8f4a-42b4-ab86-38821d74352f
https://www.ft.com/content/362bcad4-8f4a-42b4-ab86-38821d74352f
Regeneron buys 23andMe out of bankruptcy
Drugmaker’s takeover comes less than two months after start-up filed for protection
www.ft.com
May 19, 2025 at 1:52 PM
Regeneron buys 23andMe out of bankruptcy
https://www.ft.com/content/362bcad4-8f4a-42b4-ab86-38821d74352f
https://www.ft.com/content/362bcad4-8f4a-42b4-ab86-38821d74352f
Reposted by Emil Uffelmann
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!
April 21, 2025 at 1:16 PM
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!
Reposted by Emil Uffelmann
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
April 19, 2025 at 11:42 AM
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
Reposted by Emil Uffelmann
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...
@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
April 16, 2025 at 2:31 PM
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...
@naturemedicine.bsky.social by my team @scripps.edu
www.nature.com/articles/s41...
Reposted by Emil Uffelmann
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!
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...
rdcu.be
April 16, 2025 at 8:04 AM
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!
Reposted by Emil Uffelmann
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...
Here’s (almost) everything we know about it
erictopol.substack.com/p/the-breakt...
April 14, 2025 at 1:48 PM
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...
Here’s (almost) everything we know about it
erictopol.substack.com/p/the-breakt...
Reposted by Emil Uffelmann
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...
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.
www.nature.com
April 7, 2025 at 3:59 PM
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...