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Emil Uffelmann

@euffelmann.bsky.social

PhD student in statistical genetics at Vrije Universiteit Amsterdam

55 Posts95 Follower190 Folgt
FinnGen@finngen.bsky.social · 2mo ago

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...

Chris Simms@chrisnsimms.bsky.social · 2mo ago

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...

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 ...

medrxiv.org

Chris Simms@chrisnsimms.bsky.social · 2mo ago

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...

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

newscientist.com

Emil Uffelmann@euffelmann.bsky.social · 11mo ago

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

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

Our World in Data@ourworldindata.org · 11mo ago

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.
Jonathan Sebat@sebatlab.bsky.social · last yr.

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.

medRxivpreprint@medrxivpreprint.bsky.social · last yr.

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

Emil Uffelmann@euffelmann.bsky.social · last yr.

📣 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

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

Tabea Schoeler@tabeasch.bsky.social · last yr.

🚨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 🧵👇

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

Carl Zimmer@carlzimmer.com · last yr.

“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
Michael Hobbes@michaelhobbes.bsky.social · last yr.

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!

Simon Fisher@profsimonfisher.bsky.social · last yr.

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.
Eric Topol@erictopol.bsky.social · last yr.

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...

nature.com

Sjoerd van Alten@sjoerdalten.bsky.social · last yr.

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