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sashagusevposts.bsky.social
Statistical geneticist. Associate Prof at Dana-Farber / Harvard Medical School. www.gusevlab.org
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Neat study and consistent with prior observational analyses showing that early cognitive function measures are not predictive of cognitive decline beyond the baseline. Here, cognitive decline also had essentially zero heritability.

Nice! Add a special relatedness matrix for cross-chromosome correlations to estimate the extra heritability due to assortative mating. Much larger contribution for educational attainment than for fluid IQ. www.nature.com/articles/s41...

🚨 I just released the alpha-version of my AI in Genomics textbook! It covers (so far!) sequence language models & deep learning for DNA/RNA/proteins. Check it out: biobook.michel.science

Nice! Environmentally responsive eQTLs are enriched for being more distal and for constrained genes relative to conventional QTLs.

That we are so complicated is an afront to those who wish to make it too simple. The only rule in biology is that there are exceptions. 'There is grandeur...'

Number of genetic differences between random pairs of African individuals (black points) and a corresponding random European (blue points). 20 random samples. One instance: a person from Russia has fewer differences to a Kenyan than that same Kenyan to a Namibian.

Very excited to share our preprint led by M. Levin @skoyama.bsky.social J. Woerner & with S. Damrauer assessing genome-wide pleiotropy of >1,000 clinical traits across ~1.7M individuals with nearly 30K locus-trait associations! www.medrxiv.org/content/10.1... @medrxivpreprint.bsky.social

Incredible GRC Genetics and Genomics conference line-up this year in Portland, Maine (www.grc.org/human-geneti...). With conference-maxxing sessions that run to 9:30pm! Submission deadline is June 8th, conference July 6-11th.

This pre-print is a few years old but it's still very mysterious that the genetic influences on developing a disease seem to have very little to do with the progression/worsening of the same disease.

Single task, lightweight, short-context bp res. profile models often perform on par or outperform current large, multi task, long context models on counterfactual prediction. Much to do to improve. Bonus: robust, efficient interpretation of syntax Great collab with @jengreitz.bsky.social lab.

Now is the time to speak out in support of free speech and academic independence of US universities

Interesting heritability analysis of heart failure (Lee et al. nature.com/articles/s41...). Common variant h2 estimated at 3-10%, rare burden h2 estimated ~2% with a third of the latter explained by known cardiomyopathy genes.

This study is a big deal. Is it going to be the one that kicks down the PRS door? Maybe. And that’s saying something. Assessment of a Polygenic Risk Score in Screening for Prostate Cancer www.nejm.org/doi/full/10....

In light of HHS freezing all research funds to Columbia today, I think this op-ed from Larry Summers last week is worth revisiting. Universities should: - Negotiate only over matters covered by statute - Leverage endowments - Implement their own reforms archive.is/KL3Dd

An interesting though experiment: what if a paper had instead come out showing that confounds led to a 2-5x *underestimate* of the heritability of social outcomes like income and education? What would the title of the paper be? How would it be covered by geneticists and the press?

Great thread. See also our 'points to consider' statement www.sciencedirect.com/science/arti...

The New York Times recently had an article on IVF and embryo selection which I think buries a few important ledes about these products ...

Finally read this by @sashagusevposts.bsky.social - very interesting piece. There's some fascinating bit of sociology of science to be done on when things get counted as replication crises versus when they're seen as healthy methodological progress. theinfinitesimal.substack.com/p/how-popula...