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Eric Fauman (he/him)

@ericfauman.bsky.social
1.4K followers 308 following 517 posts

GWAS whisperer. It's usually the closest gene. Executive Director, Integrative Biology, Internal Medicine Research Unit. Pfizer R&D. All views my own. Also cats.

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Eric Fauman (he/him) @ericfauman.bsky.social · 24/10/2025
@inmice.bsky.social Here's one for you www.sciencedaily.com/releases/202...
sciencedaily.com
New treatment cuts cholesterol by nearly 50%, without statins or side effects
Researchers have developed a DNA-based therapy that targets the PCSK9 gene to lower cholesterol naturally. Using polypurine hairpins, they increased cholesterol uptake by cells and reduced artery-clog...
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Eric Fauman (he/him) @ericfauman.bsky.social · 19/10/2025
If you didn't get your certificate were you really even there?
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Eric Fauman (he/him) @ericfauman.bsky.social · 28/09/2025
Quick quiz. This is a plot of how often each p-value appears in this @gwascatalog.bsky.social. Actually I binned the -log10(p) values to their integer values (e.g., 8-9, 9-10, etc). I'm highlighting 3 outliers here, in orange. What are these p-values and why do they diverge so much?
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Eric Fauman (he/him) @ericfauman.bsky.social · 28/09/2025
Getting ready for ASHG25 here in Boston! Who's coming to town? As you know, I am fascinated by extreme GWAS p-values. Will we see anything beyond the current record holder, 10^-28538, for eye color. Interestingly, the p-values for all lead SNPs in the @gwascatalog.bsky.social follow a power law
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Eric Fauman (he/him) @ericfauman.bsky.social · 16/08/2025
Years ago I asked on Twitter why my heart rate would continue to climb even after I fixed the speed and incline on my treadmill. At the time, no one on Twitter could give me a satisfactory answer. But now GPT4o was able to answer it and suggested approaches to quantify the phenomenon.
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Eric Fauman (he/him) @ericfauman.bsky.social · 24/06/2025
This was the random page on the internet that set me down this rabbit hole: www.tomsguide.com/wellness/fit...
tomsguide.com
Slash your biological age by up to 16 years by doing this one thing during your daily walk — new study says
This is one hack that could increase your life expectancy
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Aaron Rupar @atrupar.com · 24/06/2025
DeGETTE: Will you commit that neither you or anyone else at HHS will take retaliatory action against the brave scientists at NIH? Should be an easy answer bc it's illegal RFK Jr: I can commit that we are absolutely depoliticizing science at NIH for the first time D: I asked you a simple question
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Eric Fauman (he/him) @ericfauman.bsky.social · 23/06/2025
This makes no sense to me. How does genetically predicted walking speed relate to biological aging (here as telomere length( except as some sort of biomarker of overall health? www.nature.com/articles/s42...
nature.com
Investigation of a UK biobank cohort reveals causal associations of self-reported walking pace with telomere length - Communications Biology
Mendelian randomisation analysis of the UK Biobank cohort, supported by analyses of accelerometer-measured activity intensity, reveals that genetically-determined walking pace is associated with longe...
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Eric Fauman (he/him) @ericfauman.bsky.social · 07/06/2025
To add to your weekend reading, check out this nice report on the Genes & Health cohort from Hye In Kim, David van Heel and many many more: www.medrxiv.org/content/10.1...
medrxiv.org
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity
Genes and Health (G&H) is a biomedical study of adult British-Pakistani and -Bangladeshi research volunteers enriched for autozygosity. We performed whole exome sequencing in 44,028 G&H participants, ...
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Eric Fauman (he/him) @ericfauman.bsky.social · 26/05/2025
Please consider signing.
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Yang Luo @y-luo.bsky.social · 25/05/2025
Pirruccello #eshg2025 - “There is really one game in town right now that is @ukb UKB.” - no one else is producing image data in healthy heart at this scale. @ukbiobank.bsky.social Taking a deep-dive into image-derived phenotypes such as sphericity and cardiac age acceleration.
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Eric Fauman (he/him) @ericfauman.bsky.social · 25/05/2025
I was today years old when I realized that the Chromosome 2 fusion event which is unique to modern humans probably coincides with a possible population bottleneck event ~900kya. Could the one have caused the other? This is my adaptation of the published figure DOI: 10.1126/science.abq7487
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Eric Fauman (he/him) @ericfauman.bsky.social · 25/05/2025
From Adam Butterworth: worth getting embroidered:
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Eric Fauman (he/him) @ericfauman.bsky.social · 11/05/2025
Happy Caturday! These are Mage and Moxie, brothers to my avatar cat, Mojo.
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Eric Fauman (he/him) @ericfauman.bsky.social · 17/04/2025
Yes, Mojo, the all black cat, is my mews and inspiration. He's patiently waiting for the first pet association wide study, aka PAWS. Also, I'll be at Hinxton from April 28 to May 1st. Love to catch up with anyone who might be around then.
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ACLU of Massachusetts @aclum.bsky.social · 14/04/2025
We’re in U.S. District Court in Burlington, Vermont for Rümeysa Öztürk’s hearing. Today, the legal team is asking the judge to release her from detention. Ideas aren’t illegal. Rümeysa must be released.
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Eric Fauman (he/him) @ericfauman.bsky.social · 13/04/2025
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. That is, a genetic variant seldom disrupts exactly one phenotype. What else does tugging on that thread do?
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Eric Fauman (he/him) @ericfauman.bsky.social · 05/04/2025
My favorite sign so far
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Eric Fauman (he/him) @ericfauman.bsky.social · 04/04/2025
Looks like something kind of bad happened at 4 pm on Wednesday
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Eric Fauman (he/him) @ericfauman.bsky.social · 28/03/2025
It seems like the start to an April Fools joke but it's not! I'll be presenting at the BWH division of genetics SMGM seminar on April 1st! bwhgenetics.org/event/smgm-e... Looking forward to meeting folks there!
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Francisco De La Vega @ribozyme.bsky.social · 25/03/2025
For current #23andMe participants. bbofa.org
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AAUP @aaup.org · 24/03/2025
TODAY @ NOON ET in NYC: COLUMBIA PROFESSORS TO HOLD EMERGENCY VIGIL AGAINST ADMIN CONCESSIONS TO TRUMP ADMINISTRATION. Columbia gates at 116th & Amsterdam Ave (Not Broadway) • Hands Off Our Students, Faculty, & Research • Defend Science • Defend Academic Freedom • Defend Freedom of Speech
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steven t. piantadosi @spiantado.bsky.social · 23/03/2025
Imagine being in charge of a university and believing it was clever and strategic to sacrifice all your values, only to be tricked by the dumbest and most dishonest president in history.
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Eric Fauman (he/him) @ericfauman.bsky.social · 23/03/2025
Another interesting paper from my morning feed FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries www.nature.com/articles/s41... Also finds BCL11A and MYB
nature.com
FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries - Nature Communications
Here, the authors perform a genome-wide association study of fetal haemoglobin (HbF) levels in Africans with sickle cell disease replicating known loci, identifing 14 candidate loci, and highlighting FLT1’s role in hypoxia-associated HbF induction.
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Eric Fauman (he/him) @ericfauman.bsky.social · 23/03/2025
From my recommended articles feed this morning: MetQTLs in pigs identifies many of the same genes as in humans Merging metabolomics and genomics provides a catalog of genetic factors that influence molecular phenotypes in pigs linking relevant metabolic pathways link.springer.com/article/10.1...
link.springer.com
Merging metabolomics and genomics provides a catalog of genetic factors that influence molecular phenotypes in pigs linking relevant metabolic pathways - Genetics Selection Evolution
Background Metabolomics opens novel avenues to study the basic biological mechanisms underlying complex traits, starting from characterization of metabolites. Metabolites and their levels in a bioflui...
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Eric Fauman (he/him) @ericfauman.bsky.social · 22/03/2025
One bright spot in my inbox each day is google scholar's recommended articles which I think is extrapolated from my publications. This one caught my eye (in a good way) Genome-Wide Association Study for Resting Electrocardiogram in the Qatari Population www.ahajournals.org/doi/10.1161/...
ahajournals.org
Genome‐Wide Association Study for Resting Electrocardiogram in the Qatari Population Identifies 6 Novel Genes and Validates Novel Polygenic Risk Scores | Journal of the American Heart Association
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Eric Fauman (he/him) @ericfauman.bsky.social · 22/03/2025
This account seems to have posted every English word in alphabetical order but gave up at "impracticalness", which seems quite a propos. Not sure how "Fauman" made it into the dictionary though...
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Eric Fauman (he/him) @ericfauman.bsky.social · 20/03/2025
Over the past couple weeks I've shared 7 gwas visual pun images all leading up to today. Their individual solutions were: EPO, hemoglobin QPRT, pyroglutamylglutamine UMPS, orotate INS, glucose NOS1AP, QT interval OTOP, vertigo XDH, urate What is the solution to my overall puzzle?
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Eric Fauman (he/him) @ericfauman.bsky.social · 20/03/2025
A reminder. These were the first 4 clues in my scavenger hunt:
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Eric Fauman (he/him) @ericfauman.bsky.social · 20/03/2025
Slipping in this last one a few hours under the deadline. I call it rs140136459. Who's that causal gene, what's the trait and how does it relate to this image? And what is the secret message of the whole scavenger hunt?
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Eric Fauman (he/him) @ericfauman.bsky.social · 19/03/2025
Sorry to interrupt with a little bit of science but I only have one day to complete this scavenger hunt. This one is called rs2272744. Maybe one of my trickier ones. Who's that causal gene, what's the trait and why this picture?
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Eric Fauman (he/him) @ericfauman.bsky.social · 19/03/2025
"The best we can say is that the current administration is consistent in derailing and gutting science. We are left wondering: why?" Answer: autocracy 101 Defund opposition, control the narrative, consolidate power.
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Eric Fauman (he/him) @ericfauman.bsky.social · 19/03/2025
I need to squeeze in a few more scavenger hunt entries. I call this one rs12143842. Who's that causal gene, what's the trait and how does it relate to the image?
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Rachael Sirianni, PhD @docsirianni.bsky.social · 15/03/2025
This is horrible to post, but I may as well post it. We are essentially shutting down research operations in my group, which is focused on treatments for pediatric brain cancer. I’m a well funded investigator, and there’s no choice. Science can’t function without the stability of NIH
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Eric Fauman (he/him) @ericfauman.bsky.social · 15/03/2025
Another minor distraction. The next installment of my scavenger hunt. This one should be be pretty easy I call it rs3842753: What's the trait, what's the gene, and how does this image relate?
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Rob Patro @robp.bsky.social · 12/03/2025
On Thurs, March 13 at 9AM (ET), @noorpratap.bsky.social will be defending his dissertation! If you want to learn more about tree-based quantification & differential testing, or scATAC-seq preprocessing; tune in! Talk link: umd.zoom.us/j/9873133564... Abstract: talks.cs.umd.edu/talks/4137
talks.cs.umd.edu
Talks
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Eric Fauman (he/him) @ericfauman.bsky.social · 10/03/2025
Re-upping yesterday's cartoon in my timeline. Yes, the trait is "orotate" and the gene is "UMPS" an enzyme that takes orotate as a substrate. I'm not entirely pleased with the AI generated art but it's the best I could do.
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Prem Thakker ツ @premthakker.bsky.social · 10/03/2025
25 hours after Mahmoud Khalil was detained in a Columbia-owned apartment building — Khalil’s whereabouts are still unknown & Columbia has still not commented
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Eric Fauman (he/him) @ericfauman.bsky.social · 09/03/2025
A weak distraction, the latest addition to my scavenger hunt. I call it: rs2242247
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Eric Fauman (he/him) @ericfauman.bsky.social · 09/03/2025
"Until recently, Hanley worked at the law firm Williams & Connolly, according to an archived version of his bio page from January." I'm sure that makes him more qualified to judge science than the study section that approved the grant. theintercept.com/2025/03/05/l...
theintercept.com
Leaked List Shows DOGE Is Lawyering Up
A list of DOGE staffers reviewed by The Intercept shows Elon Musk’s quasi-agency has brought in at least four more attorneys.
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Kevin Gannon (now a Moo Deng fan account) @thetattooedprof.bsky.social · 09/03/2025
They're only banned if you let them be banned. The proper response from any agency is "Fuck you. See you in court." All of this website scrubbing and exhibit purging is cowardly and disgraceful. As Timothy Snyder has observed, it's simply teaching power what it can do.
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Eric Fauman (he/him) @ericfauman.bsky.social · 09/03/2025
Re-upping this visual rebus for the second element of my scavenger hunt. GWAS result on the left. Visual representation on the right What's the connection?
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Eric Fauman (he/him) @ericfauman.bsky.social · 08/03/2025
A gwas gene-trait pair, or in this case, a trait-gene pair:
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Jessica Tollkuhn @tollkuhn.bsky.social · 07/03/2025
#standupforscience NYC! Harold Varmus speaking now!
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Eric Fauman (he/him) @ericfauman.bsky.social · 07/03/2025
I'm going to put together a little scavenger hunt over the next several days based on gwas causal genes. www.ebi.ac.uk/gwas/variant... Here's the first one. Who's that causal gene, what's the trait and how does the image relate?
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Eric Fauman (he/him) @ericfauman.bsky.social · 06/03/2025
Hey @inmice.bsky.social Do you cover "in rats" too? scitechdaily.com/diabetes-bre...
scitechdaily.com
Diabetes Breakthrough: Fish Oil May Reverse Insulin Resistance
Fish oil supplementation modified the profile of defense cells, shifting them from a pro-inflammatory to an anti-inflammatory state, effectively reversing a condition resembling type 2 diabetes. A Bra...
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Eric Fauman (he/him) @ericfauman.bsky.social · 05/03/2025
Ok, so peloton isn't my first stop for trigonometry and physics calculations, but there are at least 2 computational errors in their workout report. See if you can spot them:
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Eric Fauman (he/him) @ericfauman.bsky.social · 05/03/2025
Just adding this to my collection of causal gene-trait visual mnemonics. If you missed it, this is for the trait "valine levels". The flowers are supposed to be valerian which is the etymological source for the name valine which also acts like catnip. The causal gene is BCAT2, or two black cats:
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Eric Fauman (he/him) @ericfauman.bsky.social · 04/03/2025
Solution provided like in competed image. Nearest gene.
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John Skiles Skinner @skiles.blue · 04/03/2025
Imagine DOGE opens your mail and finds your household electric bill. To eliminate this cost, they burn your house down without warning. Then they total up the bills that, as a homeless person, you will never again pay. On its website, DOGE boasts about the money it has saved you.
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