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From their website: https://www.discoveryloop.com/ Includes a lot of big names from Google. Hope it will help to accelerate scientific research. Here's the announcement on Twitter:

Two aunts and an uncle were also tested, presumable with the idea that rare mutations that also appear in family are unlikely to be damaging ones related to ME/CFS?

Much of this paper and the tools used are too complex for me. But it looks like an attempt at finding a rare mutation that might explain ME/CFS in a single patient. Whole genome sequencing was performed by DanteLabs, and then various quality controls and filters were used to help identify rare...

A pipeline for the discovery of causal variants in Mendelian ME/CFS Paolo Maccallini Identifying causal variants in suspected Mendelian disorders remains challenging when whole-genome sequencing reveals numerous rare candidates but no obvious molecular diagnosis. We developed PerGen, a pipeline...

Anelloviruses came up in the Lipkin study of viruses in ME/CFS although patients had lower levels of anelloviruses instead of increased levels as in this COVID-study. A multicenter virome analysis of blood, feces, and saliva in myalgic encephalomyelitis/chronic fatigue syndrome - Briese - 2023 -...

We can also have a look at the genes inside the categories and the p-values MAGMA assigned them based on their association with ME/CFS. For the top category "synapse adhesion between pre- and post-synapse (GO:0099560)" the top genes were NRXN1 (neurexin-1) and NLGN1 (neuroligin-1) as well as...

Methods I’ve downloaded the data version 1.3 here: https://syngoportal.org/download It includes 3 excel files. The ontologies.xlsx file has the name of the categories and the genes in it. To work with MAGMA, I created a file that has the name for each ontology, then all the gene ensemble IDs on...

The authors have created SynGO: several collections of genes involved in synaptic locations or processes. They made 303 of these expert-curated categories based on 1,112 synaptic genes. The paper has some interesting info about these genes: that they tend to be longer than average and are...

Abstract Synapses are fundamental information-processing units of the brain, and synaptic dysregulation is central to many brain disorders ("synaptopathies"). However, systematic annotation of synaptic genes and ontology of synaptic processes are currently lacking. We established SynGO, an...

The reasoning was more that if vasopressin is reduced, it would likely result in more frequent complaints of polyuria in ME/CFS, and I was wondering if we have any good data on this. I know it's reported (think it's mentioned in the ICC also), but it never really stood out to me among the...

Yeah was thinking the same. Perhaps the most interesting things happened before those fatigue blocks in ME/CFS patients. Think the experiment is interesting, but with only 15 patients and so many tests, it's hard to make conclusions. Would be interesting to see how other controls, such as...

So muscle problems didn't appear as a separate cluster in their analysis of symptoms, so they think these act like "bridge symptoms" connecting some of the symptom domains. The main idea seems to be that if symptoms correlate with each other, then that suggests a shared underlying mechanism...

Useful overview, thanks. I'm not aware that polyuria (high urine output) is a common or notable problem in ME/CFS. Does anyone know any survey data on this? Perhaps it's easily overlooked given the many other symptoms and problems ME/CFS patients have. In this paper, approximately 50% of...

Was reading this 2025 paper with whole-genome sequencing data from more than 300.000 people in the UK Biobank. Adding confounders had little effect on the heritability estimates for most traits, except for educational attainment and fluid intelligence. Source: Estimation and mapping of the...

The data for their primary analysis with multiple ethnicities is quite hard to find but I believe it's this one here (GCST90838616): https://www.ebi.ac.uk/gwas/studies/GCST90838616

Applying the human brain atlas analysis by Duncan et al. 2025 to this fibromyalgia GWAS I got the following results: I expected similar results to ME/CFS because several genes (RABGAP1L, HTT, DCC, OLFM4) come up in both GWAS, but the pattern in this cell type is quite different. Instead of...

The authors note similarity to DecodeME results: HTT and DCC also came up in DecodeME, although just below the significance threshold.

They also did tissue enrichment using GTEx and also found that only central nervous system had significant hits. The panel on the right is from the PanSci mouse Atlas which I hadn't heard of before. Perhaps something to try out with DecodeME as well. They write:

Now published in Nature Medicine: https://www.nature.com/articles/s41591-026-04492-6

Both also came up in DecodeME even though it used very different sampling compared to the ICD-codes used in this fibromyalgia GWAS. I hope the publication means, that they will share the summary data in the GWAS Catalog.