Happy to share a new preprint, where we studied the expected outcomes of polygenic embryo screening in real-world IVF patients.
Key conclusion: gains are very small for most infertility patients, with risk reductions under 5%.
🧵1/12
www.medrxiv.org/content/10.6...
A herculean effort by many, but esp. the first three authors: Ujjwal Rathore, Eli Dugan, and Hunter Thornton working in the Krogan and Marson labs, with a veritable army of collaborators from HARC (harc.ucsf.edu) and beyond.
Press release: gladstone.org/news/scienti... (inc. paper link)
New preprint led by Hrushikesh Loya, me, and Simon Myers where we introduce GhostBuster! www.biorxiv.org/content/10.6...
The idea is to find all the different ways a target individual relates to reference groups in genealogies, to "bust the ghosts" in our ancestry.
For an update on our preprint about the mysterious signature SBS5, see: www.biorxiv.org/content/10.1.... New analyses throughout, but see Figure 5 in particular.
Feels like this paper on protein-templated DNA synthesis by a natural enzyme warrants some comment.
So here's a 🧵. /1
www.science.org/doi/10.1126/...
Excited to share our new findings in @science.org on how the DRT3 bacterial defense system uses a reverse transcriptase that builds DNA repeats without a nucleic acid template. Microbes never cease to amaze!
www.science.org/doi/10.1126/...
It is far from clear that selection on highly polygenic traits is driving the single locus signals that they report. In that sense, the enrichment is just a general indication that their signals fall in functional regions. 15/
Reposting this old thread on the "Pervasive findings of directional selection" from ancient DNA. While the authors extended their results in various ways, I think many of these points still stand.
I'm still here. Would love to see this work. Not my personality to be a super-regular poster but trying to retweet more.
4 people pointing at what looks to be partially assemble microscope
Upcoming Freeman Hrabowski Scholars competition! Career transforming stable, sustained support @hhmi-science.bsky.social #FreemanHrabowski Scholars Program offers early career faculty up to $10M over 10 yrs, plus salary & benefits. Postdoc program, too. Applications open 11/3! bit.ly/4vhC0LA
Evolutionary landscape of endomembrane systems. On top are two possible endomembrane systems, represented as directed graphs (pER: proto-endoplasmic reticulum; PM: plasma membrane; IC: intracellular compartment). In the layer below, endomembrane graphs are represented as nodes (white dots) connected by evolutionarily viable transitions (red lines). Collectively these dots and lines define an evolutionary landscape. The landscape breaks up into less functional (left) and more functional (right) endomembrane systems, introducing a selective bias.
How did eukaryotic cells get their Golgi, endosomes, lysosomes and other endomembrane compartments? We show that endomembrane evolution depends on long periods of neutral molecular exploration, punctuated by sudden leaps.
New preprint: www.biorxiv.org/content/10.6...
Xin Jin FTW!
"We developed Perturb-CLEAR, which integrates pooled CRISPR screening and whole-mount imaging to quantify brain-wide cytoarchitecture, and paired it with Perturb-seq to link structural phenotypes to transcriptomic changes."
www.biorxiv.org/content/10.6...
Delighted to share our latest research from the 23andMe Research Team, just published in @nature.com !
We looked at data from >27,000 participants to uncover how human genetics influences weight loss efficacy and side effects of GLP-1 medications like semaglutide. A short thread 🧵👇
Some slides from a recent talk on missing heritability.
www.dropbox.com/scl/fi/kvogj...
Today in @nature.com we introduce INSTALL, which bypasses mammalian DNA immune sensing to enable non-viral DNA integration with recombinases—a step toward safe, and mutation-agnostic genome editing. 🧬 🧵 (1/13)
www.nature.com/articles/s41...
@harvardmed.bsky.social @mgbresearch.bsky.social
For decades, molecular biology and human genetics have been built around measurements of average gene expression. That was partly conceptual, but also technological: for a long time, the mean was the quantity we could measure most reliably. Our new preprint argues that this framework is incomplete.
Have you served on an NIH study section (or thought about serving)? Did you know that that the small perk of being able to submit your own applications after the deadline has largely been revoked? grants.nih.gov/grants/guide...
A few years ago, using palaeoproteomics, we identified a tiny hominin bone from Denisova Cave and named it Denisova 17 (D17).
A rather unremarkable sliver.
At the time, I wondered, could it be Denny’s sibling (the Neanderthal/Denisovan hybrid we had just reported)?
Well, turns out: no. 🧵1/4
That made a big difference to me when I had to rapidly fill a funding gap in 2019 while I was serving on Council.
People who volunteer massive amounts of their time to serve on study section should share in that benefit.
That's not the issue:
If your submission receives an unfundable score in one cycle, you ordinarily receive the reviews too late to resubmit in the next cycle. But continuing submission makes it possible to revise and resubmit in the next cycle after the original submission. That's a huge bonus.
One incentive for being a study section member for NIH is “continuous submission.” Or the ability to get extra time for submitting grants when you are a peer reviewer. NIH is terminating this in August.
Turnover of the editorial staff I believe
Monthly median Received to Accepted time (days) at Nature Genetics
Why bioRxiv
Delighted to share our latest preprint: Julie Zhu identifies a surprising reason why the genetic architecture of brain-related traits is so different than other traits. Check it out!
My drawing of a wasp-mimic moth - an incredible black and yellow specimen with long orange antennae.
My drawing of a bright pink and yellow elephant hawkmoth.
A mottled green and brown Oleander hawkmoth, with small pink bits on its wings.
A striped hawmoth - mostly brown, with flashes of hot pink on its lower wings.
Thinking about how cool moths are.
This week in preprints: 4 papers on bats that refuse to age, a heart disease mechanism with a surprising fix, autism gene therapy in organoids, and ancient viral DNA hiding in human centromeres.
Oh my god, the alt text is a gift. 😹
