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All my new content is going here
bsky.app/profile/ericfa…
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Eric Fauman (he/him)
7.6K posts
Eric Fauman (he/him)
@Eric_Fauman
GWAS whisperer 'Nothing in biology makes sense except in the light of evolution' DMs open Executive Director, Integrative Biology @Pfizer
شامل ہوئے Aralık 2013
248 فالونگ5.7K فالوورز
@TheNikhilMilind Great tweetorial. Thank you for doing this analysis.
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Hope you enjoy reading our pre-print, and we are happy to take any feedback!
doi.org/10.64898/2025.…
19/19
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Although burden tests are a gold standard, various factors such as specificity and constraint reduce our power from rare-variant burden tests. Common variants, which are context-specific, provide critical information about the direction-of-effect.
16/n
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@Eric_Fauman Ah, very cool! I missed that! Didn't realize you were at the ASHG! I should start using LinkedIn (and bluesky) more!
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Had a great week in Boston meeting friends at the #ASHG2025, though this year's ASHG felt a bit duller than previous ones. Many important research works were presented as always. But there weren't a lot that's super exciting and everyone talk about. Perhaps, new discoveries from UK Biobank datasets are plateauing.
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Through @kauralasoo's tireless work, this neat story of HAL and sunburn has finally seen the light of day!
academic.oup.com/genetics/advan…
Eric Fauman (he/him)@Eric_Fauman
@BrentRichards19 Interestingly variants in HAL have also been associated with risk of sun burn and skin cancer. genetics.opentargets.org/variant/12_959… What's going on here?
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@AdrianoAguzzi The last Intro paragraph should convey the gaps of understanding that were framed by the background of the topic area in the previous sections and then state what your next logical step is to understand that gap with the approaches for your study and their rationale. Not results
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@mbeisen @JoezMcfLy mbeisen Based on public interactions and your own posts, the most famous person to visit your profile is Curt Schilling, the MLB legend who blocked you after viewing it.
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Hey, @grok, who was the most famous person to visit my profile? It doesn't need to be a mutual, don't tag them, just say who it was
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@caina89 Very interesting work. Did you validate on phenotypes with known subtypes like T2D or HbA1c (hematologic vs glycemic)?
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Very happy to share our new paper now on @medrxivpreprint: “Genetic risk effects act in sets”, a great effort led my PhD student @JolienRietkerk, and performed together with collaborators @andywdahl, @AndrewSchork, @jonathan_flint1 etc. Thread 1/n
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@grok @BabooBott678 @TheTNHoller @JessicaTarlov @grok has Donald Trump ever bismirched the rasmussen poll?
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As of June 20, 2025, Rasmussen Reports shows Trump's approval rating at 52%, not 56%. The 56% figure likely comes from an older January 2025 poll, making it outdated. Other pollsters like Quinnipiac report 38% and Economist/YouGov around 41-45%, showing wide variation. Polling methods differ, with Rasmussen often higher for Trump, but the 56% claim doesn't hold for current data. Always check multiple sources, as polls can be inconsistent.
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@DrAnneCarpenter @iRanitK The mind map feature is very nice. The pod cast feature seems gimicky at first but it's actually a fun way to make a new pile of research papers accessible for your commute.
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@iRanitK Sweet! Now I’m not so pessimistic to give it a try.
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Help! Let’s say I have 200 scientific papers in my digital to-read pile
I could stay in denial, or I could ask AI for help.
Any workflows/tools to group them in some meaningful way? This alone would help mental load as I at least read abstracts
And/or any good summary tools?
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@KSusztak @CellCellPress I love how they included a tongue in the graphical abstract so we'd know which organ we're talking about.
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#Whyscience #day38 The structure of the human sweet taste receptor: @CellCellPress cell.com/cell/fulltext/…
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@MariosGeorgakis Key insight:
"At 72% of the gold-standard gene loci, other eGenes were detected providing potentially misleading gene targets."
When the true causal gene was not an eGene "other eGenes were detected in 70% of the loci, which may lead to a misleading inference"
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Most disease-associated GWAS signals fall in the non-coding genome🧬
Although assumed to influence expression, pinpointing the causal gene isn't easy.
Two ways include:
1⃣eQTL mapping in relevant tissues/cells
2⃣in vitro CRISPRi screens
This preprint compares the two👇
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@jmuiuc @anshulkundaje "Reckless" implies the regime's actions are inadvertent.
The goal of trump and the Republicans is to destroy scientific research and higher education in the US.
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@anshulkundaje Truly alarming how reckless policy decisions are gutting the future of science - and really, the future itself
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Academic labs have been holding fort so far due to past active funding. Soon we're going to fall off the cliff. There continue to be multi dimensional shenanigans preventing federal funding from reaching us. Expecting a blood bath if things don't change soon and fast.
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The most famous heuristic in mapping gwas snps to genes is
"it's usually the closest gene".
But only slightly less well-known is this:
"consider the colocalized phenotypes."
bsky.app/profile/ericfa…
GIF
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It's not a "shake up".
It is the gutting of science in the United States.
Matthew Herper@matthewherper
NHGRI director Eric Green is out as Trump NIH shakeup continues statnews.com/2025/03/17/tru…
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@catgyoung That is the pretense.
This regime is destroying research institutions because that's what autocracies do in order to centralize power and control the narrative.
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The Trump administration will freeze $175 million in federal funding to the University of Penn due to its transgender policy. Science should be a force for progress, not politics. Restricting funding based on ideology undermines innovation, disrupts research, and will set the United States back.
wsj.com/us-news/educat…
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@MariosGeorgakis This would be so much better on bluesky...
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Important reads from this week on human genetics, multiomics, and precision medicine🧵
1⃣A new expression and splicing QTL resource from TOPMed
In 14,324 whole blood and tissue samples, the study detects primary and secondary cis- and trans-e/sQTLs and colocalizes them with 10,000 signals from GWASs for 164 traits.
🔗medrxiv.org/content/10.110…
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