Nikos Panousis

Exciting News! Our latest preprint from my postdoctoral research at @sangerinstitute is now available on bioRxiv 1/16 biorxiv.org/content/10.110…

Happy to see our MacroMap papers finally published in Nature Communications! In the published version, we validated many of the disease-implicated splice junctions with long-read sc RNA-seq. Splicing QTL: nature.com/articles/s4146… Expression QTL paper: nature.com/articles/s4146…

Less than a month to apply! If you're a PhD student in human genetics, don't miss this unique opportunity. We have a stellar lineup of tutors promising immersive scientific and mentoring discussions.

All these years studying eQTLs, and finally, a plot that explains why my genes wake up after a caffeine marathon! Hooked on this, I will call it a double-shot eQTL plot :-)

Delighted to share the new publication from @anderson_carl team at @NatureComms, led by the brilliant Dr Elizabeth Goode The study characterises Primary sclerosing cholangitis (PSC) GWAS loci nature.com/articles/s4146…

What geneticists fear the most: The Cambridge Plot.

@anavinuela Congratulations @anavinuela and @aline_real25 definitely on the top of my to read pile!

I am excited to share our new preprint with @anavinuela, @AnnaRamisch, @arnsbr, and @dermitzakis! We used direct RNA long-read seq on 60 LCLs from the 1000 Genomes Project to study genetic regulation of transcript abundance & RNA modifications (m6A). researchsquare.com/article/rs-461….

@tuuliel Congratulations Tuuli, well deserved!

Happy and excited to be elected as a member of EMBO!

At #ESHG2024 in Berlin? Check out my talk at 7pm!

New paper introducing RESHAPE, a method simulating genomes of hypothetical descendants that can be used as reference panels safeguarding against re-identification threats. Read more: nature.com/articles/s4358…. Great work done by Théo Cavinato!

The Human Genetics Programme @sangerinstitute is looking for three postdocs to each lead on one of several cool projects co-mentored by two faculty, including PIs at @HDR_UK-Cambridge (@hilsomartin @aidanbutty @minouye271 @GosiaTrynka and me). See: tinyurl.com/yh5euwrk.

We’re recruiting for multiple positions in my lab in New York and Stockholm, at MSc and PhD levels. If you’re interested in pursuing creative systems genetics questions with tools/data like Developmental GTEx, CRISPR and single-cell, please read further / share. 1/

Cell-type and dynamic state govern genetic regulation of gene expression in heterogeneous differentiating cultures biorxiv.org/content/10.110…

Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9

Two Postdoc positions in my lab @humantechnopole! Please RT! We have an @OpenTargets project in collaboration with @GosiaTrynka lab. An ambitious project, with industry partnership to comprehensively understand regulators of B cell activation using CRISPR screens.

Come work with us at @PREDICTIBD! @KristineAllin and I are looking for a PhD student to combine the incredible Danish healthcare registry data with genomics. Great collaborators in UK, US, Nordics. Lovely industrial partners. It's time to personalise IBD care. 1/3

Excited to share our study characterizing eQTL at cell type resolution in human lung tissue is now published in @NatureGenet. nature.com/articles/s4158… This was a collaborative effort co led by @HeiniMNatri and @cbazodi and co supervised by myself, @JKropski and @davisjmcc 1/2

A passion project over the last four years is out - it delivers insight in common genetics of male & female infertility, highlighting the power of international genetic collaborations for biological discovery #scienceisateamsport ⬇️ medrxiv.org/content/10.110…

Excited to share our review paper in Cell! With @SashaGusevPosts @s_ramach @yang_i_li we discuss the genetic and molecular architecture of human traits, future opportunities and challenges and ways forward. authors.elsevier.com/a/1igrbL7PXqPfU

.@FachalLaura rocking the room and casually announcing doubling the number of IBD associated signals, 500 candidate effector genes and 270 potentially causal proteins #ECCO24 #ECCO2024