A new feature @science.org on the clusters of cells that enhance the spread of cancer, and what can be done to break them up
www.science.org/content/arti...

Genetic predictors of GLP1 receptor agonist weight loss and side effects - Nature Identification of genetic variants associated with the efficacy and side effects of GLP1 medications could underpin development of precision medicine approaches in the treatment of obesity.

Were you inspired by our paper on the genetics of GLP-1 drug response? www.nature.com/articles/s41...

Want to make impactful discoveries with the world's best genetic dataset? We're hiring!

StatGen: tinyurl.com/ys4mvhej
Risk Prediction: tinyurl.com/psamt294
Data Products: tinyurl.com/2ff7eavb

Original thread by @adamauton.bsky.social bsky.app/profile/adam...

Fantastic results from 23andMe team led by amazing @adamauton.bsky.social on the efficacy of GLP-1 drug response.

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 🧵👇

Maybe. In this case, when I first saw this I was like, wow! papers were published in days back then. Also:

Good (scary) plot. Y-axis should start from zero though.

Huge lung-cancer screening campaign boosts early diagnosis A programme that offers scans to smokers between the ages of 55 and 74 detects a large number of early-stage lung tumours.

A national screening programme increased the number of people diagnosed with early-stage lung cancer in England over half a decade

go.nature.com/4veTAjw

"As all scientists should know, the first step in doing science is to identify a problem to solve."

"Deep learning scientists are doing this backwards: they have a solution in search of a problem. And when you have a beautiful new hammer, suddenly a lot of things look like nails."

"[Some], model in hand, go around looking around for problems to solve. Some of them have realized that DNA sequencing is super-efficient and is generating reams of data, so they’ve latched onto this."

"This is not how good science gets done. You don’t start with a tool and then look for problems."

Sure. But doesn't this say that vigorous is better than more?

This is a great study and a fun read for a scientist, but I hope these journal mandate an accompanying "lay person action items" section. How should I talk about results of this study to my parents?

Seems to me this is a big gap in such a large study. @erictopol.bsky.social thoughts?

Langmead Lab team recognized with Best Paper Award at ACM-BCB 2025 The winning paper presents a software tool for quickly and accurately identifying which species’ DNA are present in a sample.

Congratulations to 3rd-year undergrad Steven Tan (first author!!), @benlangmead.bsky.social, @mohsenzakeri.bsky.social, & @sinamajidian.bsky.social on their Best Paper Award at @acm-bcb.bsky.social 2025! 🏆

🚨🧬🚨

We're looking for a specialized Research Assistant to spearhead a project aimed at exploring new RNA therapeutics in diabetes and other metabolic disorders.

Junior or Senior, we're hoping to recruit a highly motivated and self-driven scientist interested in both basic and applied science. 🦄

This feels a bit artificial, driven less by a real tech breakthrough and more by aggressive discounting, similar to Uber. I am curious whether the unit economics can support a viable business and whether VCs will bankroll it long enough to reach profitability (as they did for Uber).

142,000 participants!
The largest randomized trial of a multi-cancer early detection (MCED) test failed its primary endpoint
genomeweb.com/cancer/grail...
Had the enrollment been risk-based instead of age 50, it would likely have been very positive.

Scientists no Longer Find Twitter Professionally Useful, and have Switched to Bluesky Synopsis. Social media has become widely used by the scientific community for a variety of professional uses, including networking and public outreach. For

Bluesky is the new science Twitter, new study by @whysharksmatter.bsky.social and Julia Wester concludes!

"Results show that for every reported professional benefit that scientists once gained from Twitter, scientists can now gain that benefit more effectively on Bluesky than on Twitter."

There’s growing agreement in the research that non-smoking #lungcancer is increasing and that our approaches to understanding and early detection haven’t kept pace.

This Trends in Cancer piece brings a lot of that thinking together in one place. #LCSM

🔗 www.cell.com/trends/cance...

Why All Mammograms Should Incorporate A.I. A very impressive body of evidence has accumulated

Is it time for a new standard of care when it comes to mammograms in the era of AI?
erictopol.substack.com/p/why-all-ma...

AI hallucinations in science manuscripts are a nuisance. Paranormal citations, or paracites, will be a nightmare.

www.biorxiv.org/content/10.6... (w/ @sina.bio & @lauraluebbert.com).

Time for a thread on our Christmas preprint “Origin and evolution of acrocentric chromosomes in human and great apes”. I had so much fun with this project and paper. It will be hard to summarize in a thread, but I’ll try www.biorxiv.org/content/10.6... [1/21]

A Closer Look at AUROC and AUPRC under Class Imbalance In machine learning (ML), a widespread claim is that the area under the precision-recall curve (AUPRC) is a superior metric for model comparison to the area under the receiver operating characteristic...

A good, enjoyable paper on AUROC vs AUPRC under class imbalance. In a nutshell, AUPRC's superiority is a myth.

AUROC with bootstrapping all the way!

arxiv.org/abs/2401.06091

TF-MINDI is out! A new method to learn cis-regulatory codes through rich embeddings of TF binding sites. TF-MINDI decomposes motif neighbourhoods, and works downstream of any sequence-to-function deep learning model. We deeply study the enhancer code in human neural development, check out the thread

Vaccines, the most impressive public health intervention in medical history, and where we could be headed if there was not efforts to negate truth, facts, and evidence
A great, open-access, review and perspective by @scientificdiscovery.dev

Now published in Algorithms for Molecular Biology: link.springer.com/article/10.1.... Key message: a tiny CNN model with 7k parameters can capture main splice signals across vertebrates+insect and halves the minimap2 & miniprot junction error rate. I always use this new feature now.

Now published in gigascience: academic.oup.com/gigascience/.... Key messages: SVs are highly enriched in low-complexity/tandem-repeat regions and are harder to call. They behave differently from transposon insertions. Always stratify if you study SVs.

Mapping isoforms and regulatory mechanisms from spatial transcriptomics data with SPLISOSM - Nature Biotechnology Differential isoform usage is identified with high statistical power from spatial transcriptomics data.

Excited to see this out www.nature.com/articles/s41...! Nonparametric kernel-based tests for spatially variable isoform usage in spatial transcriptomics. So many interesting examples in the CNS and cancer, we're only scratching the surface!

Uncovering the role of LINE-1 in the evolution of lung adenocarcinoma - Nature Lung adenocarcinomas bearing the ID2 mutational signature display increased LINE-1 retrotransposon activity, which contributes to their fast evolutionary dynamics and aggressive phenotype.

Nature research paper: Uncovering the role of LINE-1 in the evolution of lung adenocarcinoma

go.nature.com/4oUHIPb

That’s a wrap on #SABCS25! Thank you to Dr. Lee Schwartzberg for presenting data demonstrating our platform’s ability to detect early stage breast cancer with high accuracy. #AI #RNA #earlydetection

Learn more here: www.exai.bio/publications...

Risk-Based vs Annual Breast Cancer Screening This randomized clinical trial examines whether risk-based screening is a safe and effective alternative to annual mammography for detecting breast cancer in women 40 years and older.

Important new, large (N>28,000 women) randomized clinical trial of breast cancer screening: age-based vs risk-based by polygenic risk score, genomics
"opportunity to modernize screening"
jamanetwork.com/journals/jam...