Emil Uffelmann (@euffelmann) header
Emil Uffelmann (@euffelmann) profile picture

Emil Uffelmann

@euffelmann

Researcher in statistical genetics | Polygenic Scores | Alzheimer's disease

 Amsterdam, The Netherlands
Joined August 2013
  • Tweets496
  • Following735
  • Followers328
39Media
Photo by Emil Uffelmann (@euffelmann)Photo by Emil Uffelmann (@euffelmann)Photo by Emil Uffelmann (@euffelmann)Photo by Emil Uffelmann (@euffelmann)Photo by Emil Uffelmann (@euffelmann)Photo by Emil Uffelmann (@euffelmann)Photo by Emil Uffelmann (@euffelmann)Photo by Emil Uffelmann (@euffelmann)Photo by Emil Uffelmann (@euffelmann)Photo by Emil Uffelmann (@euffelmann)
1/n Out today in @Nature: our Alzheimer’s disease GWAS of ~2.8M people (~184k cases). We find 48 new loci, ~3x higher SNP-heritability, enrichment in genes up-regulated in microglia and down-regulated in neurons, and we release public summary statistics. nature.com/articles/s41586-0…
Image from Emil Uffelmann (@euffelmann)
1
36
3
150
10,532
Emil Uffelmann retweeted
nature (@Nature) profile picture
nature
@Nature6h
Nature research paper: Alzheimer’s disease genetics converges on microglial and neuronal dysregulation go.nature.com/48l3XI3
Alzheimer’s disease genetics converges on microglial and neuronal dysregulation

Alzheimer’s disease genetics converges on microglial and neuronal dysregulation

Nature - A multi-ancestry study of Alzheimer’s disease identifies new risk loci and potential drug targets, implicates microglia and neurons, and reveals a larger common-variant contribution...

nature.com
24
113
16,521
Emil Uffelmann retweeted
Douglas Wightman (@Dubhghlaso) profile picture
Douglas Wightman@Dubhghlaso7h
I just want to add some of my favourite parts from the paper. We used publicly available scRNA-seq data to identify potential cell specific mechanisms for the loci we identified. Here are some examples in cell types other than microglia: 1/8
Emil Uffelmann (@euffelmann) profile pictureEmil Uffelmann@euffelmannOct 28
1/n Out today in @Nature: our Alzheimer’s disease GWAS of ~2.8M people (~184k cases). We find 48 new loci, ~3x higher SNP-heritability, enrichment in genes up-regulated in microglia and down-regulated in neurons, and we release public summary statistics. nature.com/articles/s41586-0…
Image from Emil Uffelmann (@euffelmann)
1
2
1
5
356
Emil Uffelmann retweeted
Emil Uffelmann (@euffelmann) profile picture
Emil Uffelmann@euffelmannOct 28
1/n Out today in @Nature: our Alzheimer’s disease GWAS of ~2.8M people (~184k cases). We find 48 new loci, ~3x higher SNP-heritability, enrichment in genes up-regulated in microglia and down-regulated in neurons, and we release public summary statistics. nature.com/articles/s41586-0…
Image from Emil Uffelmann (@euffelmann)
1
36
3
150
10,532
7/n 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 (PGC-ALZ) @PGCgenetics
1
1
266
8/n This summarizes the most important results, but the paper includes much more. rdcu.be/SjGYEiEZuLua
Image from Emil Uffelmann (@euffelmann)
1
1
259
Emil Uffelmann retweeted
Loïc Yengo (@LoicYengo) profile picture
Loïc Yengo@LoicYengoOct 26
Excited to share our new @NatureHumBehav paper reporting within-family heritability estimates (the gold standard design unconfounded with population stratification, shared environmental effects and assortative mating) from 500,000 siblings pairs of diverse ancestries.
2
28
1
66
5,678
Emil Uffelmann retweeted
Loïc Yengo (@LoicYengo) profile picture
Loïc Yengo@LoicYengoOct 21
If you’ve ever run a GWAS, chances are you've used COJO (Conditional and Joint analysis). Well, we've extended and improved (up to 100× faster 🚀) this essential tool in the GWAS toolkit to enable joint analyses across multiple ancestry groups. Paper: nature.com/articles/s41588-0…
Multiancestry conditional and joint analysis applied to GWAS summary statistics

Multiancestry conditional and joint analysis applied to GWAS summary statistics

Nature Genetics - This study introduces Manc-COJO, a method for detecting independent genetic associations by integrating data from multiple ancestries, reducing false positives and enabling fast,...

nature.com
3
31
89
5,357
Emil Uffelmann retweeted
gen0m1cs (@gen0m1cs) profile picture
gen0m1cs
@gen0m1csSep 19
Interesting new preprint from Uffelmann & Visscher on properly converting Nagelkerke’s R^2 for disease PGS to the liability scale.
Image from gen0m1cs (@gen0m1cs)
Image from gen0m1cs (@gen0m1cs)
1
6
19
1,956
1/ New preprint 🧵 Lee and colleagues (Genet Epidemiol, 2012) introduced a canonical formula to transform linear-regression variance explained (R²) to the liability scale.
Image from Emil Uffelmann (@euffelmann)
1
5
1
31
1,988
more replies
6/ We provide an R function to implement the conversion. It applies directly to previously published Nagelkerke R² estimates, placing them on a comparable scale without reanalyzing individual-level data.
1
1
144
7/ 📄 Preprint (including the function): biorxiv.org/content/10.64898… w/ Peter Visscher
From Nagelkerke’s R2 to Liability-Scale Variance Explained for Polygenic Scores

From Nagelkerke’s R2 to Liability-Scale Variance Explained for Polygenic Scores

It is desirable to quantify the prediction accuracy of polygenic scores (PGS) for disease on the scale of liability and adjusted for case-control ascertainment in the test sample, because that allows...

biorxiv.org
4
145
Load more