Sven Erik Ojavee
@svenerikojavee
PhD student in statistical genetics @dbc_unil. Probability, statistics, human genomics
ID: 1303092178173014016
07-09-2020 22:06:09
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Much of the knowledge on the 22q11.2 deletion syndrome stems from clinical cohorts. 🏥 Can we learn more by studying 22q11.2 CNVs in a population-based cohort such as the UK Biobank? 🌍 Find out in our new preprint by Malú Zamariolli! ⬇️ medrxiv.org/content/10.110…
Happy to see our paper about liability scale heritability for low prevalence diseases now out AJHG! The expression is now also available for ascertained traits enabling stable heritability estimation for more traits sciencedirect.com/science/articl… Zoltán Kutalik Dept of Computational Biology, Uni Lausanne ISTAustria
I am very happy to share our review article “Using Human Genetics to Improve Safety Assessment of Therapeutics”, now published in Nature Reviews Drug Discovery. 🧵 nature.com/articles/s4157…
Excited to share that our paper about DNAm mediation through transcript levels is now published Nature Communications! nature.com/articles/s4146… Very grateful to all co-authors Chiara Auwerx Kaido Lepik Eleonora Porcu Zoltán Kutalik for their precious contribution! #omics #GWAS #MendelianRandomization
Most promising method to identify drug targets? 🎯 - #GWAS - #eQTL-GWAS - #pQTL-GWAS - #exome Excited to share our new preprint where we compare all methods including #network approaches (medrxiv.org/content/10.110…) Very grateful to all co-authors Zoltán Kutalik @cauwerx Patrick Deelen
📢 New CNV-#GWAS preprint! Excited to share the 2nd chapter of my PhD! 🥳 After previously showing that #CNVs affect continuous traits in the UK Biobank, we asked whether they also modulate susceptibility to 60 common diseases? 👇🏻🧵 tinyurl.com/bdfcdjwe
New year, new paper! 💫📄 Our study on the role of #CNVs as #pleiotropic modulators of #CommonDisease susceptibility is out in Genome Medicine: rdcu.be/dvonQ Major findings (👉🏻 x.com/CAuwerx/status…) + 3 of my favorite new insights based on reviewer’s comments in 🧵