Manolis Dermitzakis

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Manolis Dermitzakis

Manolis Dermitzakis

@dermitzakis

Geneticist

Geneva, Switzerland Katılım Ocak 2009
609 Takip Edilen9.4K Takipçiler
Manolis Dermitzakis
Manolis Dermitzakis@dermitzakis·
@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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Jonathan Pritchard
Jonathan Pritchard@jkpritch·
@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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Lappalainen Lab
Lappalainen Lab@tuuliel_lab·
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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Manolis Dermitzakis
Manolis Dermitzakis@dermitzakis·
@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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Benoit Bruneau
Benoit Bruneau@benoitbruneau·
It’s either ignorance of the field (doubtful esp back to back) or intentional omission. Both are bad. Oh and 100% of the time (as these are only two of so many) American lab is cited European not.
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Benoit Bruneau
Benoit Bruneau@benoitbruneau·
pet peeve: if there are two contemporaneous papers reporting a discovery, and especially back to back, why do some people cite only one? In two papers this week with 90 and 85 references an additional one would be OK. And no, not mine.
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RabP
RabP@1RabP·
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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Cecilia Lindgren
Cecilia Lindgren@ceclindgren·
Anyone have an invite for the other place - pretty please 🙏
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Manolis Dermitzakis
Manolis Dermitzakis@dermitzakis·
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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Manolis Dermitzakis
Manolis Dermitzakis@dermitzakis·
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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Robert Scott
Robert Scott@robert_a_scott·
Clearly the best city in the world for #ESHG2023, although I might be a wee bit biased.
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Yoav Gilad
Yoav Gilad@Y_Gilad·
@alexisjbattle I'd say if it evolved, it's no longer the same work... so the answer is 'no'.
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Alexis Battle
Alexis Battle@alexisjbattle·
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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DennisFreyBooks
DennisFreyBooks@dennis_the_frey·
Yes. Go ahead. Please explain those relationships.
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Jeremy Farrar
Jeremy Farrar@JeremyFarrar·
Well being, a privilege & with it a responsibility. On this Saturday evening a joy.
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