ASHG25 Poster 4106 Today at 2:30pm! Whole-genome long-read sequencing from 10 NANOGRAMS, not micrograms! ULI-HiFi delivers: ✅ 99.82% F1 for SNVs ✅ 98.9% TR accuracy ✅ Discovered LIMD1 TR expansion progressively increasing from normal→polyp→adenocarcinoma, with evidence of function

At ASHG25 RIGHT NOW: Deep-coverage PacBio HiFi sequencing reveals hotspots of tandem repeat variation in the male germline. 12 men, paired blood/sperm, 1.7M repeats analyzed. What we found about mutational bias will surprise you! Poster 6044W, 2:30-4:30pm today. Lucas Finot presenting.

Proud to announce that we received the NIH Director's New Innovator Award to develop a new class of genome editing tools!

A follow-up to my quote of the day this morning: A short Bluetorial about Vannevar Bush and his legacy

Interested in modern grant writing in the age of AI? Join us this summer through Stanford Continuing Studies! continuingstudies.stanford.edu/courses/prof...

Big: The final version of a randomized, controlled World Bank study finds using a GPT-4 tutor with teacher guidance in a six week afterschool program in Nigeria had "more than twice the effect of some of the most effective interventions in education" ("equating to 1.5 to 2 years" of standard school)

I had such a powerful experience at BCM SKY Retreat this weekend led by @grahamerwin.bsky.social and met so many amazing people! It was a thought-provoking and reflective weekend with lessons that I will carry with me! What a privilege to partake in such a transformative experience! 🥰

A first in human genomics: a 4-generation pedigree reference, now in Nature. Built with #PacBio HiFi, it maps de novo mutation rates, reveals paternal bias, and captures high mutation rates in tandem repeats—even in Y and repeat-rich regions. Paper here: go.nature.com/4lGMPlP #TheresHiFiForThat

There are a number of tools (Elicit, Perplexity, Google's Deep Research, Consensus within ChatGPT) to find references. One of the complaints from academics is these tools don't find "the right papers". So far, ChatGPT Deep Research and their o3 model have the best "taste" that I have found. (1/3)

The LLM (AMIE in this case) performs higher (59.1% top-10 accuracy) than the clinician with the LLM (51.7%). Another study consistent with what @emollick.bsky.social has been sharing for a while now. www.nature.com/articles/s41...

Updated this chart with the newest Gemini. It shows the rapid progress in AI over less than two years: costs for GPT-4 class models has dropped 99.7% and even the most advanced models (beating PhDs at the GPQA) are still 82% cheaper than GPT-4. Probably not worth betting on this trend ending soon.

A new means of selectively imaging the inner mycolate of mycobacteria using a compound that covalently modifies an enzyme intercepts to create a new intermediate with the Kim lab, @thebrysonlab.bsky.social and the Bernhardt lab. #TB

The strchive.org paper is out!! The paper describes STRchive as a resource to improve the diagnosis of tandem repeat disorders, then goes beyond it to consider what can be learned about childhood onset and population prevalence of these diseases. 🖥️ 🧬 link.springer.com/article/10.1...

A new article from Laurel Hiatt and @hdashnow.bsky.social describing STRchive is now available at Genome Medicine. genomemedicine.biomedcentral.com/articles/10.... Check out the database resource, as STRchive "streamlines TR variant interpretation at disease-associated loci." strchive.org

Evidence that a well prompted LLM can help learning from a (small, single-subject) randomized controlled trial at Harvard: “here we show that students learn more than twice as much in less time with an AI tutor compared to an active learning classroom, while also being more engaged and motivated.”

We don't spend a penny on marketing. It's all word of mouth for @costplusdrugs.com That's how we keep prices so low. Please spread the word !

The first bifunctional protein degrader to deliver Phase III data! It seems to work, but people were definitely expecting more:

5 yr anniversary of the day I started my COVID ICU visit

Spectacular news this morning for CRISPR gene editing to treat genetic disease from Beam Therapeutics. This method was developed by David Liu's lab at the Broad. = "academic" science produces innovations that enables the biotech sector to build medicines investors.beamtx.com/news-release...

Excited to share the peer-reviewed version of our paper, which is out today!! Bispecific antibodies targeting the N-terminal and receptor binding domains potently neutralize SARS-CoV-2 variants of concern | Science Translational Medicine www.science.org/doi/10.1126/...

Researchers from @pollyfordyce.bsky.social lab explore what makes some transcription factors more or less selective for their DNA ligands. This work could guide the design of more selective DNA-binding proteins for many bioengineering applications:

ChatGPT Code Interpreter is still my favorite implementation of the pattern where an LLM can write code, run it, see any errors and iterate to fix them It's been stuck on GPT-4o for ages - today it got a huge upgrade and now work with GPT4.5 and o3-mini! simonwillison.net/2025/Mar/5/c...

As #AGBT approaches, discover how #PacBio SPRQ chemistry for Revio is advancing #HiFisequencing efficiency, reducing costs, and unlocking new research possibilities. bit.ly/4g89HXK#AGBT#PacBio#HiFisequencing#AGBT25

We are starting to see what "AI will accelerate science" actually looks like. This Google paper describes novel discoveries being made by AI working with human co-scientists (something I think we have all been waiting to see), along with an early version of an AI scientist for wider use.

At #BPS2025? Check out the posters by @sovannytaylor.bsky.social and @gtleung.bsky.social on Monday. Venom peptides as tools to study cell penetrance and designer condensates to probe cytoplasmic rheology across length scales.

Highly recommend the Unpaywall extension to access manuscripts — it's easier than Sci-Hub, and legal! unpaywall.org/products/ext...

Here’s my post on the NIH indirect costs slash-and-burn. God, these people are exhausting:

You will never guess the report that took Deep Research the longest to generate of any I made before. 30 pages, 10,600 words, and actually super interesting to read based off a single prompt. Full report (and prompt): chatgpt.com/share/67a152...

A long post about what’s happening to the science funding agencies in the US and why. As mentioned, this one just kept getting longer even as I kept stripping curse words from it. www.science.org/content/blog...

Friends and colleagues, I’ve written a book on effective functional genomics study design, which will be available on Amazon in a couple of weeks. Sharing the TOC to spark interest. I hope students and those planning genomics experiments will find it useful! I’ll share updates soon

First real post on @bsky.app! Check out our latest work identifying covalent fragments as inhibitors of the Fph serine hydrolases in S. aureus. Great work from Tulsi Upadhyay and our many collaborators. www.researchsquare.com/article/rs-5...

I think you're describing science, IMO. Everything is atop a foundation of basic research. An example: at a previous company, I worked on a series of small-molecule inhibitors of Hormone-Sensitive Lipase, a possible target for Type II diabetes and related conditions. (1/10)

Deeply saddened by the news of Fraser Stoddart’s passing. Here is a piece I wrote on the occasion of his 2016 @nobelprize.bsky.social at ACSCentSci. pubs.acs.org/doi/10.1021/...

'But that’s not the only reason Science has named lenacapavir its 2024 Breakthrough of the Year. The off-the-charts success of the drug as PrEP sprang from a basic research advance: a new understanding of the structure and function of HIV’s capsid protein, which lenacapavir targets'

🎶 Hark! The folded proteins sing, Stable chains and everything. Joyful folds in ribboned form, Structures bright, precise, and warm.* 🎶 Life depends on such designs, Aligned through microscopic lines. Peace on Earth and molecules bring, Hark! The folded proteins sing. 🎶

Turn a GitHub repo into a single text file for LLM-friendly input: app takes a GitHub repo URL, displays the directory structure, lets you choose which files to include, and provides a single plain text file you can feed into any LLM. blog.stephenturner.us/p/github-rep... w/ #rstats example

Apparently, Biorender now does graphing. Do not use. Terms of service likely include them owning your first-born child.

Models like o1 suggest that people won’t generally notice AGI-ish systems that are better than humans at most intellectual tasks, but which are not autonomous or self-directed Most folks don’t regularly have a lot of tasks that bump up against the limits of human intelligence, so won’t see it

Hello, #MedSky community! We’re excited to begin our Bluesky journey. Here is a sampling of the trusted, influential, and essential information you can expect when you follow us:

Scared to share this after 10 freaking years of waiting, but here we go: We found that temperature *perception* can change the biology of the next generations, even when “it’s just in the parents' head”. Read how C. elegans neurons control epigenetic inheritance! www.biorxiv.org/content/10.1...

Biology of Genomes 2025 is coming up: - meeting dates: May 6 - 10, 2025 - abstract deadline: Feb 14, 2025 We hope to see you there for another great meeting with a fantastic speaker lineup! meetings.cshl.edu/meetings.asp...

Scientists, academics, researchers: We’re excited to share that @altmetric.com is now tracking mentions of your research on Bluesky! 🧪

Fluorescently labeled proteins are essential to research. But we should never forget how messed-up their behavior can be. An example from condensates:

You probably aren’t being ambitious enough in your AI experiments. Start with completely out there applications, assess them, and then reign in your ambitions from there. You might be inspired or surprised about how good AI is, or you might discover useful limitations earlier.

Striking similarity of some of the genetic signals in mismatch repair genes (MSH3, FAN1 and PMS2) between GWAS of somatic expansion of CAG repeats in TCF4 gene (estimated from UKB WGS data) & GWAS of age at onset of cognitive changes in Huntington's. www.biorxiv.org/content/10.1...

Gene regulation involves thousands of proteins that bind DNA, yet comprehensively mapping these is challenging. Our paper in Nature Genetics describes ChIP-DIP, a method for genome-wide mapping of hundreds of DNA-protein interactions in a single experiment. www.nature.com/articles/s41...

Sometimes you just have to persevere through negative reviews. Reviewers, please be kind :) #methodsmatter bit.ly/gs2-scholar

🎨 In case anyone need… The NIH BioArt Source is an awesome library of *free* professionally drawn illustrations for scientific presentations or figures. Downloadable in HD. Thank you NIH for this invaluable tool 🙏! Check it out 👇 bioart.niaid.nih.gov

Organizations (including university labs) should stockpile problems they could use help on from the new set of agentic & o1-like systems that are coming soon. I suspect that they will be less useful to non-experts at first, but open up some new opportunities for complex work that AIs can do.