Emil Uffelmann
@euffelmann
PhD student in complex trait genetics @VUamsterdam
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🚨 The preprint for our GWAS of Alzheimer’s disease (AD) is out Preprint: medrxiv.org/content/10.110… 🧵
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
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! 🧬🧪🧵 nature.com/articles/s4158…
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: nature.com/articles/s4158….
🚨 The preprint for our GWAS of Alzheimer’s disease (AD) is out Preprint: medrxiv.org/content/10.110… 🧵
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
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. 👉 medrxiv.org/content/10.110… 🧵 1/6
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
🚨 The preprint for our GWAS of Alzheimer’s disease (AD) is out Preprint: medrxiv.org/content/10.110… 🧵
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