This is from the same/similar team that published AlphaFold, an AI model that predicts how proteins fold and won them a nobel prize.
A couple of days they also published AlphaGenome that helps to understand the effect of genetic mutations, discussed here:
Advancing regulatory variant effect...
Today, we are excited to share an update on our progress towards a new frontier of drug design. We have unlocked a new paradigm of predictive accuracy in understanding our biomolecular world, allowing us to rationally design new medicines on a computer with unprecedented understanding and...
BTN3A2 has also been associated with schizophrenia in this study that concluded:
"Findings
We identified BTN3A2 as a potential risk gene for schizophrenia. The mRNA expression and methylation data showed that BTN3A2 expression in human brain is highest post-natally. Further electrophysiological...
The LDSC genetic correlation with depression was 0.9, which seems very high.
Apart from NEGR1 and the BTN hits, most seem quite different from those found in DecodeME. Here's the Manhattan plot:
I think James Baraniuk, Jonas Bergquist, Bjorn Bragee, Mady Hornig have all published studies on cerebrospinal fluid in ME/CFS patients in recent years but couldn't easily find cortisol being mentioned in their papers. If it's important, however, perhaps they could be contacted to ask if they...
The authors gave a presentation about their findings on the NMCB meeting a couple of days ago. I've made a brief summary of the talk on social media:
1) Dr. Felipe Correa da Silva shared more info about the first 10 brain autopsies from the Netherlands. In this new thread, we made a brief...
Nice find.
People in the experimental group were given the following info:
Their catastrophizing score increased but their pain rating and time in the cold water didn't.
They tried to induce negative affect in the control group but that didn't work. As a potential explanation they argue...
Also found this Stanford website with info on enhancers and what has been found in other GWAS:
https://e2g-portal.stanford.edu/variant/20_48935095_C_CTCTTTTTT
Think this is the preprint that introduced it:
https://www.biorxiv.org/content/10.1101/2023.11.09.563812v1
Got a hunch that because LD for SNPs often isn't 1 or 0 but a correlation value in between, that the pattern of SNPs is helpful to find out which SNPs are causal. In addition, I suspect that the for complex disease the causal effect often isn't restricted to a single SNP in a region and that the...
The links to ZNFX1 and interferon transcription factors are very interesting but the insertion was chosen randomly.
Should we perhaps do the same thing for a couple of other insertions in this region? If they have a similar effect it would be quite interesting.
Take for example...
Yes thanks. Zooming out to 800kb, I got this but not sure how to interpret it.
My first impression is that AlphaGenome seem to focus on individual SNP and their effect, while I would think that for many GWAS of diseases it's the pattern of SNPs across a region that tells the story.
I've tried inserting the SNP with the lowest p-value from DecodeME and tested RNA expression in only one tissue, the brain (UBERON:0000955). But it didn't show an effect there if I understand the the plot correctly (no difference between the red and grey line).
Suspect that we would have to...
Just saw their documentary about AlphaFold which figured out how human proteins are folded in 3D and earned them a Nobel prize in 2024. Impressive work, can only hope that AlphaGenome will have the same impact.
The documentary is called 'The Thinking Game' and worth a watch:
This looks interesting. Perhaps it could help to interpret the findings of DecodeME and clear out some ambiguity about which genes are involved?
From what I can understand it looks like a incremental improvement over previous models rather than a big breakthrough. Part of this is likely because...
Was thinking that if the treatment really worked it would probably also skew the results in the intervention group, with more people correctly identifying they were getting the treatment and not the inactive control.
This wouldn't explain why 40% in the sham group strongly believed they were...
We have a thread about this trial. It seems that blinding wasn't fully preserved and patients could somewhat guess if they were in the intervention or sham control group.
Vagus nerve-mediated neuroimmune modulation for rheumatoid arthritis: a pivotal randomized controlled trial 2025 Tesser et...
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