PolyGenie

Tech stack: #Nextflow DSL2 | Python (statsmodels + joblib) | SQLite | Plotly Dash. Live GCAT demo 👉 polygenie.igtp.cat

Feedback welcome! #PheWAS #PRS #Bioinformatics #Genomics #openscience

Molecular mechanisms underlying COPD and AAA: A multi-omics approach A multi-omics approach for comprehensive understanding of the genetic and molecular mechanisms underlying COPD and Abdominal Aortic Aneurysm

This @CVIA_Journal study identifies COPD as a potential risk factor for AAA, supported by bidirectional MR, #eQTL integration, #SingleCellSequencing, and #PheWAS, and reveals shared #GeneticMechanisms and targets for #PrecisionMedicine.

#OpenAccess: tinyurl.com/2773qq59

Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank We examined disease associations for sex chromosome trisomies (SCTs) by performing a phenome-wide association study in 2,769 individuals with SCT (47,XXY: 1,319; 47,XYY: 1,108; and 47,XXX: 342). Many ...

📣Online now!
📄 #PheWAS of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank
@finngen.bsky.social @ukbiobank.bsky.social

A one-shot, lossless algorithm for cross-cohort learning in mixed-outcomes analysis Li et al. present mixWAS, a one-shot, lossless algorithm for cross-cohort analysis of mixed outcomes using summary statistics. Applied to EHR data from seven US cohorts, mixWAS identified over 4,500 S...

New "big data" analysis tool called #mixWAS reported to be more powerful than #PheWAS and #MultiPhen in detecting associations across mixed-type phenotypes. #eMERGE data involved. Study in Patterns www.cell.com/patterns/ful...

🙏🙏🙏 Huge thanks to all who made this possible:
– Authors who shared their GWAS summary statistics to the public domain, with special thanks to @npirastu.bsky.social for sharing their #UKBiobank results!
– Online platforms that enable #PheWAS analysis: Open Targets, #IEUOpenGWAS, #GWASAtlas

Mining EHR data to identify individuals with multiple congenital anomalies using billing #Phecodes - should minor anomalies be excluded? #Bioinformatics #PheWAS @Megan_M_Shuey bit.ly/42cTLiL

Phenome-wide association network demonstrates close connection with individual disease trajectories from the HUNT study Disease networks offer a potential road map of connections between diseases. Several studies have created disease networks where diseases are connected either based on shared genes or Single Nucleotid...

Developing a SNP-based human disease network from UK Biobank and real-world health data from the Norwegian HUNT study, we found: 🔗 A strong overlap between genetically linked and co-occurring diseases; ❤️ Reveals a cardiovascular "giant component" in disease progression #NetworkMedicine #PheWAS #HUNT