Tech stack: #Nextflow DSL2 | Python (statsmodels + joblib) | SQLite | Plotly Dash. Live GCAT demo 👉 polygenie.igtp.cat
Feedback welcome! #PheWAS #PRS #Bioinformatics #Genomics #openscience
We applied it to the GCAT cohort (~5,000 individuals, Catalonia) with 135 PRS × 1,483 phenotypes → 200,000+ associations tested. Example: frailty PRS predicts both obesity AND depression risk, with a clear sex difference in MDD prevalence across PRS percentiles.
The idea: PRS tell us about genetic risk for one trait, but what if you tested that risk score against hundreds of phenotypes at once? That's PheWAS. PolyGenie automates the whole thing: regressions, percentile plots, and an interactive Dash web app. All from precomputed PRS.
New preprint! Introducing PolyGenie, an open-source Nextflow pipeline for phenome-wide association studies (PheWAS) using polygenic risk scores (PRS). Run it on any cohort! 🧵 @gcatcohort.bsky.social
preprint 👉 doi.org/10.1101/2025...
code 👉 github.com/gcatbiobank/...
🧵 New publication from the PGC Anxiety Working Group. Our GWAS meta-analysis of anxiety disorders is now published in @natgenet.nature.com! 🔗: doi.org/10.1038/s415...
GCAT · Genomes for Life: estudi prospectiu dels genomes de Catalunya 🧬⬇️
If you work on multimorbidity, network medicine, sex/gender in health, or drug repurposing, we’ve made these results (and more) available in our portal: disease-perception.bsc.es/shdc/
@alfonsovalencia.bsky.social @lmrocha.bsky.social
doi.org/10.1038/s438...
The Shingles vaccine and reduction of dementia: a new natural experiment from Canada replicated 3 others and adds to this week's link to slowing of biological aging.
erictopol.substack.com/p/spotlight-...
Cost of being female lead/corresponding author in biomedical sciences: "[T]he median amount of time spent under review is 7.4%–14.6% longer for female-authored articles than for male-authored articles" even in disciplines where women well-represented. #AcademicSky
journals.plos.org/plosbiology/...
Hell yeah! Always happy to see the hard work turn into a successful thesis! Congrats @nataliablay.bsky.social!
You and the text you need to trim in order to meet the word limit
1/ 🚨New paper in Nature Genetics
Genetic factors are associated with the educational fields people study, from arts to engineering.
Article: www.nature.com/articles/s41...
FAQ: www.thehastingscenter.org/genomic-find...
La ciència transforma la #SalutPública: un estudi d'#ISGlobal ha contribuït a una resolució del Parlament de Catalunya.
Es reconeix el vincle entre la qualitat de la #dieta i la depressió, i es promouran hàbits saludables en centres escolars i de #SalutMental.
🟠 https://f.mtr.cool/sbufhklhac
🧬A study identifies that the order and sequence of previous diseases may help predict the risk of developing long COVID
Based on data +10,000 participants in the GCAT cohort and the #COVICAT study (with @isglobal.org)
📝 For more information, please visit the following link: bit.ly/study_BMC_GCAT
Are you sure? the bird will get angry!
From a new @thelancet.com article today entitled "Health care in the USA: money has become the mission" www.thelancet.com/journals/lan...
🚀Exciting news from GCAT!
@xavifar.bsky.social, will be presenting his poster:
“Sex-specific VEGFA Overexpression linked to Long COVID Persistence” at the JBI 2025 - Bioninformatic Symposium Conference in Madrid from October 22-24.
Top by his poster and chat about the fascinating findings! 🌍🧬
Rival Sons - Feral Roots
Awesome rock album that deserves all my praise. The sound is old school if that is enough for you.
Classic! The day one script runs on the first try, I will doubt the results.
When you assume, you make an ass out of you and me
A week there is what I would need to read all those papers I put on the "looks interesting, let me save it to read it later" pile
Read the full paper in BMC Medicine. Huge thanks to our GCAT team, Sant Pau, ISGlobal, and all participants. Funded by La Marató TV3, and the Spanish Ministry of Science. #LongCOVID #Science
Beyond VEGFA, we saw changes in chemokine signaling, complement activation, and muscle structure. Long COVID is complex, where immune, vascular, and muscular systems are all involved.
One striking result: VEGFA levels were especially high in postmenopausal women. This suggests hormonal regulation may influence vulnerability to Long COVID. A finding that deserves more attention.
VEGFA stood out. It was significantly overexpressed in Long COVID patients and ranked highest in our protein interaction network. This points to vascular dysfunction as a key mechanism.
We analysed blood samples from 171 participants in the COVICAT cohort. Using high-throughput proteomics (Olink®), we studied 1,395 proteins to uncover molecular patterns behind symptom persistence.
Long COVID affects millions. It’s more than fatigue, it impacts brain, muscles, lungs, and mental health. Surprisingly, women are more affected, even if they had mild COVID. This paradox drove our research.
