Janne Pott @pottj.bsky.social · 23/09/2026Time off at a nice beach, lots of swimming (fishes, but no jellyfish), and then getting PM that a grant was approved 😁 - what more can you ask for? 020
Janne Pott @pottj.bsky.social · 22/04/2026Any other ideas for the missing replication? Happy to discuss! 000
Janne Pott @pottj.bsky.social · 22/04/2026Possible reasons for the lack of replication: 1️⃣ there is truely no causal effect. 2️⃣ there is a causal effect, but working via a mechanism we cannot detect with MR (e.g. functionality vs protein levels). 3️⃣ this is another example where MR misses the signal (like GLP-1R and BMI, or CRP and CAD). 100
Janne Pott @pottj.bsky.social · 22/04/2026Now published in CEBP: doi.org/10.1158/1055... In summary: we did not find a significant effect of PCSK9 on BC survival using Mendelian Randomization.doi.orgPCSK9 and Breast Cancer Survival: A Mendelian Randomization StudyAbstractBackground:. Proprotein convertase subtilisin/kexin type 9 (PCSK9) affects lipid metabolism. A recent study identified an association between rs562556 within the PCSK9 gene and breast cancer s... 131
Janne Pott @pottj.bsky.social · 23/01/2026📣Update: our work has now been published in Statistics in Medicine! Link to the paper: onlinelibrary.wiley.com/doi/10.1002/...onlinelibrary.wiley.comMendelian Randomization With Longitudinal Exposure Data: Simulation Study and Real Data ApplicationBackground and Aim Mendelian randomization (MR) is a widely used tool to estimate causal effects using genetic variants as instrumental variables. MR is limited to cross-sectional summary statistics..... 020
Janne Pott @pottj.bsky.social · 06/10/2025Could this be a survival data problem? Harzard ratio are hazardous (check pmc.ncbi.nlm.nih.gov/articles/PMC... ). Could this be a MR problem (life course effect vs specific effect in cancer patients)? Let me know if you have any thoughts on this!pmc.ncbi.nlm.nih.govThe Hazards of Hazard Ratios 000
Janne Pott @pottj.bsky.social · 06/10/2025First, the reported SNP failed to associate in independent data sets, then the MR with genetically proxied PCSK9 levels was not significant. Finally, we tried MVMR to correct for potential influence from lipids, but still observed no effect. 100
Janne Pott @pottj.bsky.social · 06/10/2025📣Preprint alert - a tricky one, as there are no significant results (and we all know null-results are hard to publish) Do PCSK9 levels affect survival in breast cancer patients? We tried to replicate findings in cell lines and mouse model using 3 Mendelian Randomization approaches, but failed. 185
Janne Pott @pottj.bsky.social · 10/06/2025We also compare fixing taxon traceability to the gold standard, phylogenetic decisiveness. Thanks to my master thesis supervisor Mareike Fischer for continuing on this project, keeping me in on it, and especially for proving the bounds! 010
Janne Pott @pottj.bsky.social · 10/06/2025We provide here an algorithm (implemented in R, package available at github.com/pottj/Fixing...) and some bounds for this nice set of taxon sets.github.comGitHub - pottj/FixingTaxonTraceR: Check sets of taxon sets for fixing taxon traceability (FTT), a special case of phylogenetic decisivenessCheck sets of taxon sets for fixing taxon traceability (FTT), a special case of phylogenetic decisiveness - pottj/FixingTaxonTraceR 100
Janne Pott @pottj.bsky.social · 10/06/2025Fixing taxon traceability (simplified): assume n taxa and k sets of quadruples defining a tree each. Then the set of k quadruples is fixing taxon traceable if all missing quadruples have a fixing taxon or can be resolved using the input quadruples + those with fixing taxa. 100
Janne Pott @pottj.bsky.social · 10/06/2025Fixing taxon: assume 5 taxa and only 4 of 5 possible trees available. Then one taxon is in all trees (e.g. taxon 3 in the quartet trees on the left, combination of Figure 1, 2, and 4 of the publication), the supertree is already defined (tree on the right), and hence the "missing" tree too! 100
Janne Pott @pottj.bsky.social · 10/06/2025📣Paper alert! (Spoiler: this is not my usual GenEpi paper 😁 #phylogenetics) How many small trees do you need to define one supertree? Mareike Fischer and I explored this question and defined a subclass of taxon sets that guarantees decisiveness aka one supertree link.springer.com/article/10.1...link.springer.comPerfect Taxon Sampling and Fixing Taxon Traceability: Introducing a Class of Phylogenetically Decisive Collections of Taxon Sets - Bulletin of Mathematical BiologyPhylogenetically decisive collections of taxon sets have the property that if trees are chosen for each of their elements, as long as these trees are compatible, the resulting supertree is unique. Thi... 131