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?

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

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.

This was the random page on the internet that set me down this rabbit hole: www.tomsguide.com/wellness/fit...

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

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...

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...

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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.

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

From Adam Butterworth: worth getting embroidered:

Happy Caturday! These are Mage and Moxie, brothers to my avatar cat, Mojo.

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.

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.

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?

My favorite sign so far

Looks like something kind of bad happened at 4 pm on Wednesday

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!

For current #23andMe participants. bbofa.org

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

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.

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

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...

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/...

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...

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?

A reminder. These were the first 4 clues in my scavenger hunt:

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?

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?

"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.

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?

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

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?

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

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.

25 hours after Mahmoud Khalil was detained in a Columbia-owned apartment building — Khalil’s whereabouts are still unknown & Columbia has still not commented

A weak distraction, the latest addition to my scavenger hunt. I call it: rs2242247

"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...

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.

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?

A gwas gene-trait pair, or in this case, a trait-gene pair:

#standupforscience NYC! Harold Varmus speaking now!

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?

Hey @inmice.bsky.social Do you cover "in rats" too? scitechdaily.com/diabetes-bre...

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:

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:

Solution provided like in competed image. Nearest gene.

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.

The gene-trait collection so far.

Totally inadequate for the demands of our time, but here's another sketch/visual pun to link a gwas trait to its causal gene. In this case it is the strongest trait at rs1126809. Details will dribble out throughout the day as I have time.