Eleonora Porcu

Excited to share our work @NatureComms👇#TWMR and #revTWMR quantify bi-directional causal effects between gene expression and complex traits and allow to estimate the large contribution of confounders to the observed trait-expression correlations nature.com/articles/s4146… @zkutalik

@LizaMGD @emgm2023 Amazing🤩Well deserved!!!

An even bigger honour receiving the prize of Best Presentation from Prof. Thompson!🥳 Big thanks to the @emgm2023 jury for this award & to the organisers for hosting a great meeting at Surrey with excellent talks & posters!👏 Check out our preprint here: medrxiv.org/content/10.110…

Very humbling to hear Prof. Elizabeth Thompson, who attended the very 1st Mathematical Genetics Meeting in 1973 share the history and evolution of #EMGM in today's 51st #EMGM2023 meeting!

@Eric_Fauman Thanks a lot @Eric_Fauman! Really nice to see many links confirmed by your resource!!

Another nice result is your link from citrate to ANKH. That is not in EGEA because the discovery of ANKH as a citrate transporter was made 6 years after Shin et al. ANKH is pretty clearly the correct causal gene: pubmed.ncbi.nlm.nih.gov/32639996/

I did a more thorough analysis comparing the transcript-implicated genes to the mQTL annotations in my EGEA resource, with some mixed results: raw.githubusercontent.com/fauman/EGEA/ma…

Many many thanks to @CAuwerx @smarie_smarie Tristan Woh, Alexandre Reymond and @zkutalik

🔔🔔Excited to share my first last-author paper🤩we integrated eQTL, mQTL and GWAS data in MR framework to study how metabolome mediates the effect of transcriptome on complex traits. Importantly, we show how having large molQTL data makes the difference doi.org/10.7554/eLife.…

I strongly recommend all early career bioinformaticians to apply for this amazing opportunity!!

Excited to share that our paper about DNAm mediation through transcript levels is now published @NatureComms! nature.com/articles/s4146… Very grateful to all co-authors @CAuwerx @kaidolepik @ElePorcu @zkutalik for their precious contribution! #omics #GWAS #MendelianRandomization

I will be always grateful for the opportunity I had to do my postdoc in @zkutalik lab! Amazing supervisor, great colleagues, exciting science…you cannot ask more🤩 Strongly recommended!!

A great team effort with @AnniqueC Antoine Weihs @kaidolepik BIOS Consortium @iTomRichardson Uwe Völker @FredSantoni @AlexanderTeumer @LudeFranke Alexandre Reymond @zkutalik

🔔Finally published @GenomeMedicine!! Read out how we showed that the sex-specific heritability is not detectably mediated by sex-specific gene expression regulation in whole blood genomemedicine.biomedcentral.com/articles/10.11…

A polygenic risk score to predict sudden cardiac arrest in patients with coronary artery disease medrxiv.org/content/10.110…

📢📢new pre-print out!!! With @jacquesfellay @precision_chuv we developed a #PRS combining multiple cardiac risk factors to predict the risk of sudden cardiac arrest in patients affected by coronary artery disease medrxiv.org/content/10.110…

@cristenw Congratulations!!! All the best for your future steps!!

Waiting forward to discussing with you about PRS in cardiovascular diseases! With @jacquesfellay we propose a metaPRS to predict the risk of sudden cardiac arrest in CAD patients! Come to discuss with me today at 1pm - poster P25.001.A #eshg2022

Super happy to join the #ESHG2022 in Vienna!! We are back with in person conferences and it’s really exciting!! @eshgsociety

🔔New pre-print out!!! With @CAuwerx @smarie_smarie Alexandre Reymond and @zkutalik we combined eQTL, mQTL and GWAS data in a multi-omics Mendelian Randomization approach to identify metabolites mediating transcript-trait associations. biorxiv.org/content/10.110…

Come work with us on translational genomics: bioinformatician & data scientist positions at @CHUVLausanne precision medicine unit @precision_chuv. Enthusiasm, skills, and some French required... recrutement.chuv.ch/vacancy/bioinf… recrutement.chuv.ch/vacancy/specia…

🤩🤩Amazing work done by @jenny_sjaarda and @zkutalik using MR to investigate couple phenotypic similarity and distinguish causal and confounding effects 👇🏻

@CirielloLab @MarcoVarrone @unil @dbc_unil Bravo @MarcoVarrone!!

New! @CAuwerx et al. explore the impact of CNVs on complex human traits @unil bit.ly/3IBlrBF

Excited to have my 1st first author paper out in @AJHGNews! 🤩 We explored the role of individual #CNVs and their burden in complex traits using @uk_biobank and @ESTbiobank data. Summary of findings 👉🏻 tinyurl.com/5n8kpwva. Full text in #OpenAccess 👉🏻 doi.org/10.1016/j.ajhg….