Emil Uffelmann

PhD student in complex trait genetics @VUamsterdam

[Emil Uffelmann @euffelmann]

🚨 The preprint for our GWAS of Alzheimer’s disease (AD) is out

Preprint: https://t.co/fbZDUj3c0F

🧵

[Emil Uffelmann @euffelmann]

🧬 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

https://t.co/OdppeXx9s4

[Jian Yang @jyang1981]

SV-GWAS is highly accessible now! Our new paper in @NatureGenet shows how HiFi long-read assemblies let us repurpose SNP-based GWAS data to impute structural variants (SVs) to interrogate their role in human complex traits and diseases. @WeiyangBai https://t.co/zSB90E3at0

[Pradeep Natarajan @pnatarajanmd]

Unauthorized attempt to sell UK Biobank de-identified participant data takes UK Biobank research offline for now https://t.co/c4GqDpaiNA

[Sasha Gusev @SashaGusevPosts]

Another Claude project: a static site that pulls in GWAS SNP data from ensemble, multiple public biobanks, open targets, gtex, eqtl catalog, and OMIM.

[Doug Speed @dougthespeed]

StratGWAS is our new tool for more efficient GWAS of heterogeneous diseases. Instead of treating cases equal, it weights them based on relevant phenotypic information such as medication use, age of onset or recruitment strategy. Full details on MedrXIv https://t.co/J6ANjdmztL.

[Bernardo Maciel @bernardopmaciel]

Hello! Our new study where we investigated how genetic variants shape the functional wiring of our brains using UKB was just published.
🧵 Here are our main takeaways! (1/5) 🧵

[Steven Pinker @sapinker]

Bombshell: Oliver Sacks (a humane man & a fine essayist) made up many of the details in his famous case studies, deluding neuroscientists, psychologists, & general readers for decades. The man who mistook his wife for a hat? The autistic twins who generated multi-digit prime numbers? The institutionalized, paralyzed man who tapped out allusions to Rilke? Made up to embellish the stories. Probably also: the aphasic patients who detected lies better than neurologically intact people, including Ronald Reagan's insincerity. https://t.co/77nQRF8kp6

[Emil Uffelmann @euffelmann]

@kareem_carr I knew it was going to be Scientific Reports - seems to be the dumping ground for very low-quality papers nowadays

[Hakhamanesh Mostafavi @Hakha_Most]

How do GWAS and rare variant burden tests rank gene signals?

In new work @Nature with Jeff Spence, @jkpritch, and our wonderful coauthors we find the key factors are what we call Specificity, Length, and Luck!

🧬🧪🧵

https://t.co/rNzekB06la

[Loïc Yengo @LoicYengo]

We are pleased to announce that our new study explaining the missing heritability of many phenotypes using WGS data from ~347,000 UK Biobank participants has just been published in @Nature. Please check out our manuscript here: https://t.co/PK2DIpshOQ.

[Emil Uffelmann @euffelmann]

🚨 The preprint for our GWAS of Alzheimer’s disease (AD) is out

Preprint: https://t.co/fbZDUj3c0F

🧵

[Marios Georgakis @MariosGeorgakis]

The largest GWAS for Alzheimer's disease is now out

👉109,479 cases, 74,141 proxy cases, 2,131,799 controls, 499,708 proxy controls
👉improved SNP-based heritability: 5% in previous studies --> 19%
👉127 loci, 48 novel with enrichment in microglia & neurons

[Emil Uffelmann @euffelmann]

@MariosGeorgakis In the paper, we report many results that exclude proxy cases. We will also make several sets of summary statistics publicly available, including sets that exclude proxy cases, so that others can make their own choices whether to include them in their analyses or not.

[Emil Uffelmann @euffelmann]

@MariosGeorgakis However, their inclusion can affect downstream analyses, which we and others detected for genetic correlation analysis with Educational Attainment (in the supplement). This is probably due to different ascertainment biases for proxy cases vs. diagnosed cases.

[Nathan Bell @nathanybell]

When do machine learning models actually outperform standard polygenic scores? 🤔

In our new preprint, we benchmark how non-additive genetic effects (i.e, dominance deviations) shape polygenic prediction across simulated and UK Biobank traits.

👉 https://t.co/FMbNEkIQpw

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[Danielle @DPosthu]

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 #ctglab #alzheimer #dementia #GWAS

[Emil Uffelmann @euffelmann]

Special thanks to @Dubhghlaso (shared first author), my PIs @DPosthu and Ole Andreassen, and the whole Alzheimer's disease working group of the Psychiatric Genomics Consortium

[Emil Uffelmann @euffelmann]

🚨 The preprint for our GWAS of Alzheimer’s disease (AD) is out

Preprint: https://t.co/fbZDUj3c0F

🧵

[Emil Uffelmann @euffelmann]

This study was only possible thanks to a collaboration of >100 co-authors, biobanks, pharma partners, direct-to-consumer companies, and, most importantly, the nearly 3 million participants who shared their data. I am immensely grateful for their participation.