Manolis Dermitzakis
4.1K posts

Manolis Dermitzakis
@dermitzakis
Geneticist
Geneva, Switzerland Katılım Ocak 2009
609 Takip Edilen9.4K Takipçiler

@jkpritch @tuuliel_lab @sbmontgom I think it is not very common but not too rare either. The caveat with this analysis is that, frequently, genes to be tested are filtered for a level of expression in a large fraction of individuals. Such filtering will drop these "ectopic" expression cases due to a variant.
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@tuuliel_lab We looked for this type of thing using QTL mapping many years ago and didn't find clear examples... but if it exists I think it would be more likely to show up with rare expression outlier approaches in the style of @sbmontgom
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Anyone? We've done some work looking at expression level vs eQTL effect size across tissues for GWAS loci (see GTEx 2020. TL;DR it's complicated). We didn't look specifically for these situations though; my gut feeling is that it's rare.
Brandon Logeman@brandon_logeman
I’m looking for examples where a gene is normally expressed in cell type A but a GWAS/QTL hit contains a variant that causes ectopic expression in cell type B. All examples welcome, plz RT! @jkpritch @doctorveera @SashaGusevPosts @dgmacarthur @tuuliel @anshulkundaje
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@benoitbruneau It has happened to my papers several times and I have seen it for other back-to-back papers too. And yes you are right, the American lab is almost always cited more.
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Having a wonderful late birthday weekend. Saw an amazing jazz production of Nutcracker at the South Bank Tuff Nut Jazz Club venue. With @LouisePrinjha

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Looking forward to seeing you there to discuss the future of Genomics in Pharma! #ASHG2023
Robert Scott@robert_a_scott
Join our industry session at #ASHG2023: past, present and future of the application of genetics and genomics to drug discovery and development. Including geneticists in pharma @dermitzakis, @markmccarthyoxf @SlavePetrovski @JoHowson @melrose4747
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It is so great and refreshing to see so many young and promising scientists announce that they have received the @ERC_Research starting grant. Brings back good memories 🙂 and importantly highlights that the future of science is in good hands. Congratulations everyone!!
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One of the most impactful papers from my academic lab, and probably the last great one, bringing together principles and knowledge obtained over many years to dissect disease mechanisms! Congrats to @anavinuela @arnsbr and @DIRECTdiabetes
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Congratulations @NancyGenetics for the #ASHG leadership award. So well deserved and long overdue!
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@molly_przew Many congratulations for the very much deserved #ASHG scientific achievement award!
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I’m sure I speak for many a genomicist that the thing that really bugs me about this video is how small the stack of DNA is. It needs to be a floor to ceiling bookshelf some 20 books long !
Phillip Compeau@PhillipCompeau
This is the best video to introduce a computational biology course. There will never be a better one twitter.com/fan_of_gpu/sta…
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Clearly the best city in the world for #ESHG2023, although I might be a wee bit biased.
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So proud to see @swissgenomics in #ESHG2023 this year! My friends and colleagues are continuing the impactful work we started together!
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@swissgenomics Very happy to see that! Too bad I will not be there this year
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@alexisjbattle I'd say if it evolved, it's no longer the same work... so the answer is 'no'.
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For ASHG abstracts "Has the work outlined in this abstract been accepted for oral presentation at another conference prior to June 8, 2023?" - any input on how close a previous presentation would be to need to answer yes to this? Long term projects evolve a lot #ASHG23
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@JeremyFarrar Beautiful Geneva! I hope you are enjoying your time there
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