iiinova — where your digital self keeps evolving

Eric Fauman (he/him) @ericfauman.bsky.social · 19/10/2025

If you didn't get your certificate were you really even there?

Eric Fauman (he/him) @ericfauman.bsky.social · 28/09/2025

It's a little odd. I am plotting the log10 of the -log10(pvalue) on the x axis so in this plot the null signal drops off much faster than what we observe in the @gwascatalog.bsky.social I'm curious if anyone has a hypothesis why the lead SNP p-values would have this distribution.

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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

For fun I'm also tracking the room temperature, humidity and CO2 which all increase during the workout, as expected. All the analysis, charting and graphs were done by GPT5 operating on a google sheet where I collected the minute by minute stats.

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Eric Fauman (he/him) @ericfauman.bsky.social · 16/08/2025

GPT4o pointed me to a device that measures core and skin body temperature. In gold you can see my core body temp continues to rise even after I reach my max heart rate (red), thus requiring further decreases in the work output (blue). Skin temperature drops during the workout, thanks to fans + sweat

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Eric Fauman (he/him) @ericfauman.bsky.social · 16/08/2025

This graph plots a study I did on myself which involves trying to maintain a heart rate of exactly 123 bpm for 45 minutes. Doing so requires adjusting the work output. In this plot the red line is my heart rate while the blue line is the work output, which you can see decreases over time.

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Eric Fauman (he/him) @ericfauman.bsky.social · 16/08/2025

Specifically, the phenomenon is called cardiovascular drift and it is a consequence of the body having to do the mechanical work and then also additional work to dissipate the heat generated by the effort, especially the vasodilation to direct internal body heat to the surface.

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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 · 25/05/2025

Any population geneticist want to weigh in on whether any of this makes sense.

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Eric Fauman (he/him) @ericfauman.bsky.social · 25/05/2025

In this model the effective population size reflects some kind of weighted sum of (reduced cross viability with the larger unfused population) and (higher reproductive success with the smaller fusion carriers). In absolute terms I imagine there was a "bottleneck" of one chr2 fusion carrier.

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Eric Fauman (he/him) @ericfauman.bsky.social · 25/05/2025

All the non-fusion carriers are still around but we'd expect reduced reproductive success between fusion carriers and non-carriers. No massive extinction event. Just a genetic barrier between the original population and the fusion carriers.

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Eric Fauman (he/him) @ericfauman.bsky.social · 25/05/2025

Let's imagine a child was born 900kya with a chromosome 2 fusion. Chromosomal fusions occur today in 1:1000 live births. Beating expectations this individual was able to reproduce, nucleating a small cohort of chr2 fusion carriers molecularcytogenetics.biomedcentral.com/articles/10....

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Eric Fauman (he/him) @ericfauman.bsky.social · 25/05/2025

This figure and the coverage of the paper interpret the findings to mean that 99% of the human ancestors alive at the time were wiped out by some cataclysm like major climate change. See here: www.nature.com/articles/d41... But what if there was no extinction event, just reproductive isolation

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Eric Fauman (he/him) @ericfauman.bsky.social · 25/05/2025

This paper from late 2023 got a lot of attention in both the scientific and popular press based on the claim that the effective population size of humans was reduced to 1,280 individuals about 900k years ago www.science.org/doi/10.1126/... This is the authors' model:

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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 · 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 · 13/04/2025

It is now 2025. There are 10s of thousands of gwas. I hope @opentargets and similar tools will make it easier for everyone to consider the full complement of phenotypes caused by the genetic variant of interest. In my experience this makes it far easier to infer the likely causal gene.

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Eric Fauman (he/him) @ericfauman.bsky.social · 13/04/2025

The two themes, glucose biology and hemoglobin biology, together explain 739 of the HbA1c implicated genes even though they overlap at only 117 implicated genes. I guess HbA1c really is the perfect blend of a metabolite QTL and a protein QTL!

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Eric Fauman (he/him) @ericfauman.bsky.social · 13/04/2025

So that's what I did. I wrote a script to loop through all HbA1c loci, and for each locus I recorded all the other phenotypes that colocalize with HbA1c. 1300 unique traits 999 unique gene symbols. What did I find?

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Eric Fauman (he/him) @ericfauman.bsky.social · 13/04/2025

Are we now committed to clicking on 700 loci are perusing hundreds of colocalized phenotypes? This is where we can take advantage of one of the coolest features of the @opentargets.org platform Every table has a link to the graphql api query to programmatically reproduce that table!

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Eric Fauman (he/him) @ericfauman.bsky.social · 13/04/2025

But there are over 700 loci. What if we pick another one. Clicking vote on the second locus identifies a completely different set of phenotypes, these ones all related to hemoglobin biology! platform.opentargets.org/credible-set...

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Eric Fauman (he/him) @ericfauman.bsky.social · 13/04/2025

If you click on "view" here you learn more about that specific locus Specifically we see that all the colocalized traits are related to glucose metabolism. So maybe HbA1c, the combo of hemoglobin and glucose, behaves just like glucose.

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Eric Fauman (he/him) @ericfauman.bsky.social · 13/04/2025

I've been exploring the new @opentargets.org platform with one of my favorite phenotypes, HbA1c. I like looking at metabolite QTLs and protein QTLs, so HbA1c is the perfect all-star combo. Glucose plus hemoglobin! A metabolite and a protein! Which genetic signals dominate?

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Eric Fauman (he/him) @ericfauman.bsky.social · 13/04/2025

The cleanest way to consider all colocalized phenotypes is to actually attempt the colocalization of your signal against all other phenotypes, but that would require cleaning, harmonizing and fine mapping all other phenotypes. And who has the time and resources to do all that? @opentargets.org

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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 · 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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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

And here are the last 3. Each one is a visual pun for a gene trait pair. In aggregate they reveal another solution.

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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

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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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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Eric Fauman (he/him) @ericfauman.bsky.social · 10/03/2025

Was just at coal oil point a few weeks ago. So great for birding.

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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

How does the AI do on these prior puzzles? I guess I should start embossing these with their lead SNPs.

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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

Image 2 in the scavenger hunt www.ebi.ac.uk/gwas/variant... Trait, casual gene and how it relates to the image?

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Eric Fauman (he/him) @ericfauman.bsky.social · 07/03/2025

I figured it worked for either Link's horse or the celtic goddess. There aren't many words starting with EPO and my attempts to illustrate epoxy all failed

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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 · 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

And finally, beta carotene, where the trait is BCO1, represented by 1 piece of BaCOn.

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Eric Fauman (he/him) @ericfauman.bsky.social · 05/03/2025

This is "sunburn" where the causal gene is TYR.

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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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