JOB POSTING: Director, National Human Genome Research Institute hr.nih.gov/careers/open...

How do GWAS and rare variant burden tests rank gene signals? In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck! 🧬🧪🧵 www.nature.com/articles/s41...

New 🧬✂️ pre-print! We show that paired prime editing can efficiently generate large deletions — even >1 Mb — with high precision and at scale. We use this to perform the first pooled prime deletion screen across the human genome. 🔗 biorxiv.org/content/10.1... A short thread (by Juliane Weller)👇

Nyt kun New Yorkin uusi pormestari kiinnostaa Suomessakin, ajattelin (10+ vuotta kaupungissa asuneena) korjata mediassa pyöriviä virheitä ja väärinkäsityksiä. Kun paikallista kontekstia ei tunneta, niin analyysit ja ihan faktatkin menevät välillä vinoon.

New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬 A big step for precision medicine! www.nature.com/articles/s41...

Academics in Assyria in the 7th c BC complain that admin is preventing them from doing research and teaching

Applications for MCSA are up 64%! 50% now come from outside the EU. Trump effect? The European Research market just got a hell of a lot more crowded. EU should turn on the tap marie-sklodowska-curie-actions.ec.europa.eu/news/msca-po...

Struggling to imagine the chutzpah it takes to say that someone "doesn't understand New York culture" because they're an immigrant.

Amazing job opportunity at the @institutimagine.bsky.social, Head of the Genomics Platform. I am adding an English translation of the opportunity, but fluency in French is a (reasonable) requirement for the position. Application link below. www.welcometothejungle.com/fr/companies...

US PhD admissions shrink as fears over Trump’s cuts take hold. [In some cases, to zero.] Story by @alexwitze.bsky.social www.nature.com/articles/d41...

absolute workhorse of a reaction image from over 100 years ago

Esim. tässä todetaan, että juuri näin #velkajarru toimi Saksassa. Eikä vain siirtymän vaan kaikkiin sijoituksiin. Pääomakanta on kohta rikkaiden maiden heikoimpia. Velkajarru oli "probably the worst fiscal rule by any government anywhere" ja "fiscal doomsday machine." swiftpress.com/book/kaput/

Pelottaa ja säälittää #velkajarru -Suomen tulevaisuus, mutta on pakko onnitella Kokoomusta mestarillisesta pelistä. Kokoomuslainen leikkauspolitiikka, hyvinvointivaltion kurjistaminen ja vihreän siirtymän investointien tukahduttaminen on nyt saatu politiikan peruslinjaksi vuosikymmenten ajaksi. 1/

Reminder of our postdoc position! Happy to meet at #ASHG25 this week to discuss.

Just in time for #ASHG2025, a new FinnGen public data release is live! This release features the first clinical laboratory value association results. Analyses cover 383 lab measurements (OMOPIDs) with data from ≥1,000 participants each. Access the results here: www.finngen.fi/en/access_re...

Mutta miksi noin järjettömän paljon EU-sääntöjä tiukempi tavoite? Miksi se pitää teidän hyväksyä? Ja jos tästä aiotaan lukita laki, jonka kaataminen vaatii enemmän kuin yksinkertaisen enemmistön, niin eikö se pitäisi säätää perustuslain säätämisjärjestyksessä? Vallankaappaushan tämä on.

In twelve days, New Yorkers will begin to cast their ballots and face a stark choice. A choice between democracy and oligarchy. Between a city you can afford or more of the same. Between the hope of a brighter future or a broken past. We will choose the future.

Haluan vedota täällä BSKY:ssa aktiivisiin ja vähemmän aktiivisiin poliitikkoihin. Älkää hyväksykö finanssipoliittista lainsäädäntöä tai poliittista sopimusta, joka lähes varmasti pakottaa Suomen EU-sääntöjä tiukempaan talouskuriin ja varmasti estää elvytyspolitiikan taantumissa. Kiitos huomiostanne!

Järkyttävintä tässä suunnitellussa velkajarrusäännöstössä on se, että sen muuttamiseksi tarvitaan 3/4 kansanedustajista. Millä oikeudella nykyiset edustajat sitovat tulevien edustajien käsiä vuosikymmeniksi? Onko tätä mietitty kansanvallan kannalta ollenkaan?

Some thoughts on the blossoming of genomic medicine stimulated by the excellent @ga4gh.org meeting in lovely Uppsala Sweden. www.linkedin.com/pulse/though...

Hi bioinformatics, genomics and CS friends! Please help me spread the word. I'm hiring a postdoc! Come work on cutting edge method development in algorithmic genomics with me and my group at @umdscience.bsky.social! 🖥️🧬

This is a landmark paper and resource describing circulating proteome variation in human diseases. Congrats to many colleagues in 🇸🇪 @proteinatlas.bsky.social @scilifelab.se !

A short thread. For years, I have been surprised by how much confusion our discovery of clones carrying cancer-driver mutations in normal tissues has caused in the cancer community. Typical questions like: (1) if you see these mutations in normal cells, are they really cancer drivers?... [1/4]

As I tell my students, if you arrived at a simple answer in biology you have done one of two things: arrived at the wrong answer or asked the wrong question

the answer to the trolley problem is not to pick who to sacrifice, it’s to dismantle the system that led to an unsafe trolley crossing. if any part of your morality strategy involves picking a group to let die on a hill, throw the entire strategy out. it’s wrong.

This was not a sample of academics.

We're hiring! My team at @nygenome.org is looking for a statistical genetics postdoc to decipher functional architecture of complex diseases from cutting-edge CRISPR+scRNA-seq data, with @nevillesanjana.bsky.social lab. Happy to meet at #ASHG25, apply here jobs.silkroad.com/NYGenome/Car...

I have been trying to get this published as an op-ed, but I am going to post it here since I think it is timely in light of the "consent" extortion events. Deafening Quiet from the Scientific Establishment jeremymberg.github.io/jeremyberg.g... 1/14

I want to try something again at #ASHG25 this year: I'll block some time on Thursday and Friday afternoons to meet with trainees who would be interested to chat on any topic. I did this last year and it was great to meet a whole bunch of new people, at all career stages!

🧵1/ Excited to share our new paper introducing a new #singlecell assay: scTF-seq, a high-throughput single-cell approach to explore how transcription factor (TF) dose shapes cell identity and reprogramming outcomes. 🔗 www.nature.com/articles/s41... Big congrats to the entire team @EPFL & @SIAT_China

The regime’s new proposed “compact” with universities — conditioning federal funds on giving up academic freedom & free speech & throwing trans & non-US students under the bus — is unconstitutional. Every university must reject it. It’s classic hang together or hang separately.

As we mourn Jane Goodall, this @nature.com article explores three ways in which she changed science: 1. Altering the way we view both other primates and ourselves 2. Inspiring generations of women scientists 3. Communicating science in a way that engaged the public www.nature.com/articles/d41...

Oof, one of my heroes.

Staff members at the NIH seem to have done the impossible: spend the agency's $48 billion budget. “Everyone has been rallying together to clean up the mess, but it’s a mess that did not need to be made,” an NIH program officer told me. www.nature.com/articles/d41...

Since the Ezra & Ta-Nehisi discussion is still happening: the main point I think most are missing is that Klein is saying the role of the journalist-intellectual is to do strategic politics, whereas Coates says the role of the journalist-intellectual is to tell the truth

Why it matters? progression genetics is more relevant drug targets + clinical care. 👉 Solutions: • Build larger, harmonized cohorts & refined progression phenotypes • Use proxy phenotypes from general population Read: www.nature.com/articles/s41...

📢OUT TODAY @natgenet.nature.com 📰Limited overlap between genetic effects on disease susceptibility and disease survival. By Zhiyu Yang, Nina Mars, Andrea Ganna and colleagues. ⬇️ www.nature.com/articles/s41...

A randomized trial of patients with advanced cancer who had genomically matched treatment vs standard of care showed substantial outcome improvement for the former www.nature.com/articles/s41...

This is a big advance, folks. We've never had a disease-modifying drug for this devastating inherited disease www.science.org/content/arti... www.washingtonpost.com/health/2025/... www.economist.com/science-and-...

MAJOR UPDATE: Seven of nine planetary boundaries now breached – ocean acidification also in the danger zone. Read the new Planetary Healthcheck 2025 report here: www.planetaryhealthcheck.org

Some proteins are primarily regulated by one mechanism: RNA abundance, translation, or clearance. The regulation of most proteins is dominated by different regulatory mechanisms across cell types. Gratifyingly, this complex regulation defines simple rules ⬇️ www.biorxiv.org/content/10.1...

Yup. This was me 10 years ago.

Universities. Rural hospitals. Tech companies. Several sectors are going to be profoundly hurt by this. Not to mention the chaos of the moment as current H1-B owners scramble to get back to the U.S., cancel travel, etc. due to the uncertainty. An absolute mess. As intended.

I'm hiring a computational biologist interested in complex trait genetics using deep learning approaches. Reach out to me, if interested.

It's been a busy time for NIH grants staff — the agency seems on track to spend its budget this fiscal year But, because of multi-year funding, fewer projects are being funded than in previous years. The number of R grants has fallen from 5,633 to 3,758 analysis by @jaspar.bsky.social

New preprint! With PureTarget we achieved >1000× coverage of targets with ~5kb PacBio reads at QV39. This enabled high-resolution analysis of CRISPR-Cas9 outcomes Key finding: Some CRISPR-mutations may only emerge in the second generation, due to germ cell mosaicism www.biorxiv.org/content/10.1...

Doomscrolling pause to chat CRISPR libraries! Preprint describes our new, data-driven approach to combine on-target and off-target predictions much more intelligently for *selecting* guides, which we use to develop our newest Cas9 knockout library, Jacquere. Thread: www.biorxiv.org/content/10.1...

📣Just out: Exposure accumulation drives age-dependent disease architectures and polygenic risk scores www.medrxiv.org/content/10.1... Very cool results: Accumulating E with age reduces heritability & PGS effects Led by Xilin Jiang (Wellcome ECR joint w/Alkes Price) + @arundurvasula.bsky.social

So, kudos to both #Democrats & #Republicans in the House for their draft mark-up for next year's #budget, which maintains funding for #NIH (just like the Senate). This is rare, true #bipartisanship and should be praised. But #RussellVought will not be stopped by an appropriations bill. Why? 1/