Eric Fauman (he/him)
@ericfauman.bsky.social
1.4K followers 310 following 520 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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ericfauman.bsky.social
I did filter to p < 5e-8. But we also some filtering to independent lead snps. We also have sissies studies ranging from n of a few hundred to a few million subjects.
ericfauman.bsky.social
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.
ericfauman.bsky.social
The effect size in gwas catalog are harder to compare because they are not necessarily in standard deviation units.
ericfauman.bsky.social
Oh you win! Yes, all are inappropriate attempts to avoid underflows.
ericfauman.bsky.social
Bonus question. Why is the plot of log10(count) as a function of log10(-log10(p)) a straight line?

Recall, the data is all the lead SNPs recorded in the GWAS catalog.
ericfauman.bsky.social
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?
ericfauman.bsky.social
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
ericfauman.bsky.social
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.
ericfauman.bsky.social
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
ericfauman.bsky.social
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.
ericfauman.bsky.social
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.
ericfauman.bsky.social
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.
ericfauman.bsky.social
Isn't that the beginning of the movie "Brazil"?
ericfauman.bsky.social
This was the random page on the internet that set me down this rabbit hole:

www.tomsguide.com/wellness/fit...
Reposted by Eric Fauman (he/him)
atrupar.com
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
ericfauman.bsky.social
It could be like designing an antibody to reduce circulating cystatin C levels in an attempt to improve kidney function...
ericfauman.bsky.social
And if that's the case, then we haven't really established a causal link between making people walk faster and seeing them age slower.
ericfauman.bsky.social
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carlbergstrom.com
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standupforscience.bsky.social
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ericfauman.bsky.social
Thanks for these caveats.
I guess I'm just surprised a major chromosomal rearrangement can fix in a population so quickly with no apparent impact on the effective population size. Is there good literature on this across other species.
ericfauman.bsky.social
(I did hedge a bit in my opening post calling it a "possible bottleneck")...
Reposted by Eric Fauman (he/him)
y-luo.bsky.social
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.