Emil Uffelmann

🚨 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 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. newyorker.com/magazine/2025/…

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

source: nature.com/articles/s4159…

This is a real figure taken from a research article in a Nature journal. This is insane.

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

@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.

@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.

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

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

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.