📣New from Zamani et al!
📄Aortic valve-specific genes dysregulated in calcific aortic valve stenosis as potential biomarkers and therapeutic targets
🫀🧬
👉https://t.co/Pw7P94SSRh
Thank you to all colleagues involved in this project, supervised by Dr. S. Thériault. Thank you also to all scientists and participants involved in @_CARTaGENE_ , @clsa_elcv and Biobanque de l’@IUCPQ.
📣 Clap de fin for my PhD work 🎬! The fourth and final article is now available in @CommsMedicine. We benchmarked a set of PGS for CV traits available from the @PGSCatalog resource in different Canadian cohorts🇨🇦.
See more 👇🏽 - Link (OA):
https://t.co/FQlOysUpML
(1/5)
- CAD-PGS is associated with the extent of coronary artery damage observed.
- In this study, not all CV-PGS are associated with the severity of CAD; lipid-PGS are.
2⃣Bridging genomics, transcriptomics, proteomics, and metabolomics
In a rare combination of all 4 major omics layers, this study offers a great resource for dissecting the links between genetics, expression/slicing, molecular traits and disease risk
🔗https://t.co/Om6A7YXIdO
📊summ stats: https://t.co/qvnRKq3hVK
The common IL6R p.Asp358Ala missense variant is associated with 5% ↓odds for CAD (inhibiting pathway validated & more inhibitors in RCTs), & 5% ↓odds for rheumatoid arthritis (w approved inhibitors for pathway).
New study shows even greater (10% ↓odds) for AAA.
https://t.co/0qU1zQJiUS
Finally! Happy to share my 3rd PhD paper, now published in @ATHjournal! 🚀 This study explores the impact of integrating multiple independent lipid PRSs with a CAD-PRS for CAD incidence prediction in @uk_biobank.
👉🏽Link (Open Access! 📖): https://t.co/SCDXm5Lzcy
Great collaborative work spearheaded by @DrMArdissino@aidanbutty showing that, among those sustaining early-onset myocardial infarction, a CAD polygenic risk score was the strongest among assessed predictors of recurrent events https://t.co/xaQuZyqc39 @Circ_Gen
London -> Barcelona by train ✅ (surprisingly easy! 🚄)
Just arrived for the 2024 @nextflowio Summit, very excited to be delivering the keynote tonight on this mildly intimidating stage (tech tests ✔️, Segrada Familia ✔️ … we’re ready to roll)
The catalog of all possible SNVs altering existing upORFs or creating new ones (via both canonical and non canonical TIS) in human transcripts is available on the mobidetails platform (
https://t.co/Na1LRA5y66) @soukarieh_omar @BPH_Research@univbordeaux_EN
Our new study published in @NatureComms, led by Ghislain Rocheleau and team.
Using TOPMed WGS data, estimate heritability of CAD is 34%.
Ultra-rare variants with low LD score contribute ~50% of the heritability.
Enrichment in several functional processes.
https://t.co/k7bFrUlcsb
>5000 Polygenic scores now available at https://t.co/63bPMToDLE! As of today's release we've broken 5k PGS, indexing data from 673 unique publications. A big thank you to the authors submitting their data and our team in pursuit of #openscience, #FAIRdata, and reproducibility!