📣New today! 📄Landscapes of missense variant impact for human superoxide dismutase 1 🧑‍🤝‍🧑 @axakova.bsky.social @fritzroth.bsky.social & co

Just a reminder to check for your name in this list of books that OpenAI trained from. If your name is there, they probably owe you several thousand dollars. OpenAI cried that if everyone eligible author files, the company will go bankrupt, so I'm alerting every author I have ever spoken to.

#PAXWest 2025 is a gaming paradise spread across three buildings! Here’s a quick look at how to get around and enter each building. For more maps & entry details visit PAXwest25.com/Maps

I don't work with fruit flies but even I know how important FlyBase is. Such sad news. 😞

EpiPred: A gene-specific machine learning model for classifying missense variants in the epilepsy-related gene STXBP1 https://www.biorxiv.org/content/10.1101/2025.08.09.669488v1

🚨 Most variant screens measure growth or abundance. What do they miss? That variants impact a spectrum of protein and cellular phenotypes. Variant in situ sequencing (VIS-seq) finds what’s missing: image cells 🔬 first, decode later, revealing multi-scale phenotypes for thousands of variants.👇 1/9

I couldn't sleep last night and skimmed through the names on the #BethesdaDeclaration support letter page. First, the good news. (1) There were 18,000+ names and it took me 3 hours. 1/n

Thank you to all who joined us in person or online for #VariantEffect25 🌟 📺 Symposium talks are now available on our Youtube channel www.youtube.com/@cmap_cegs8443

See our new paper in @ajhgnews.bsky.social : Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists Explores blocks to implementing MAVE data into clinical variant interpretation ‪@varianteffect.bsky.social‬ authors.elsevier.com/a/1lDFkgeXDyy6

@kathleen.loadingreadyrun.com Hi Kathleen, on recent TTC Q&A you mentioned sharing a curated lofi beats playlist with @coachnelly.bsky.social any chance you’d share here on blusky too? thanks!! 🙏

Hey @plasmidsaurus.bsky.social, have you heard of DinoCon? 🦖🦕

How bad will it be? Catastrophic. Proposed cuts to #NSF, #NIH, and #NASA will set the US R&D landscape back 25 yrs+, cause economic and job loss now, and undermine innovations to come. But, this is the WH's *proposed* budget. Speak up now before it is too late. (inflation adjusted $-s below)

Very excited about latest report from @igorulitsky.bsky.social's lab using an ASO to upregulate CHD2 expression!

CliPE now available in STAR Protocols: www.sciencedirect.com/science/arti...

CliPE now available in STAR Protocols: www.sciencedirect.com/science/arti...

@tychobrahe.bsky.social Have you been keeping tabs on Monster Train 2? Curious to hear your thoughts at some point!

Sometimes I clone with 5+ year expired NEB enzymes just to feel something.

We are continuing to look into grant terminations at the NIH, and we want to hear from you. Please reach out to us with your experiences: www.propublica.org/getinvolved/...

Bravo to ASCB, FASEB, and others for standing up for MOSAIC and other wrongfully terminated programs! 🙌🏾

Cannot emphasize this too strongly.

Happy National DNA Day from Addgene! 🧬 Commemorating the completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953, #DNADay offers a chance to celebrate the immeasurable impact of #genetic and #genomic research on human health.

Tax Day - round 3 - NIH 🩻🧠🧬 🧬 The average U.S. taxpayer contributes $105/year to NIH, helping fund: • Cancer & rare disease breakthroughs • Pandemic preparedness • Children’s health • Medical tech innovation • Mental health science & more NIH powers the science behind the healthcare we rely on.

As NIH and university funding in the US is dismantled and as this admin revokes international student visas for no reason…we need to make a stand. Thanks @ardemp.bskyverified.social for being vocal about what’s at stake! www.cnn.com/2025/04/09/h...

“To me, slashing funding and people from science in the United States is like burning your seed corn. It’s not even eating your seed corn. It’s just destroying it,” www.theguardian.com/science/2025...

Yup. This is every "dream job": 10% doing the thing, 90% doing everything else required to get to do that 10%.

Excited to have this out as a preprint! It was a pleasure to work with @calhoujd.bsky.social and all the coauthors brought together by @varianteffect.bsky.social.

Excited to share our @varianteffect.bsky.social CVI workstream preprint! Herein, we discuss important considerations for integration of multiplex functional data to generate a single score set and how this is likely to impact variant classification now and in the future arxiv.org/abs/2503.18810

Delighted our work on the development of a prime editing screening platform in HAP1 is now published in Cell Genomics. This was led by Christina Kajba and Michael Herger, who did very well to optimise all aspects. (Preprint thread: x.com/TheGenomeLab...) www.cell.com/cell-genomic...

I know more about medical science than the head of Health and Human Services and I'm a goddamn webcartoonist.

As a result of Trump’s slashes to research funding, dozens of graduate programs have announced reductions and cancellations of graduate admissions slots. If you are an impacted applicant, please fill out this survey: docs.google.com/forms/d/e/1F... 🧪🧠🧬🔬🥼👩🏼‍🔬🧑‍🔬

I've met with many cabinet nominees across many admins, and my meeting with RFK Jr. was by far the most troubling. He rattled off debunked conspiracy theories & lied to my face—denying his own statements he'd made on record. We cannot confirm an anti-vaxxer as Secretary of Health.

Executive wants to frame the NIH indirects cut as $4B in savings. But given that NIH returns $2.5 on every $1 investment, this would actually cost US economy a net $6 BILLION (per year!). Not to mention the human costs of wrecking education and research sectors and the communities they serve.

Having had a student who was supported by a diversity F31 and managing those awards leaves me 💔

Worst week for science EVER. Sunday: ASM scrubs DEI mentions from website. Tue: NASA scrubs DEI from website; ICE arrests a student on campus; NSF plans to cut staff; USAID halted. Wed: HHMI kills diversity program; NIH trashes applications for diversity F grants. Fri: NIH cuts indirects.

Sharing what I put elsewhere: 4 years of my graduate training were supported by an NIEHS diversity supplement. This program helped me learn how to write NIH grants ~2 years early, paid for conference travel and enabled me to build a network separate from my PhD advisor, and funded supplies 1/

Proud to introduce curated loci prime editing (cliPE)! It is a generalizable and accessible platform to characterize many genetic variants in a gene of interest 1/11 arxiv.org/abs/2501.04822

We are hiring! Looking for a research technician to join our team, preferably with some wet lab experience but not necessary. We welcome anyone with a willingness to learn! Applications can be submitted through jobs.weill.cornell.edu/job-invite/9...

Any mutuals getting hyped for the Jan Grand Sumo basho? Starting this weekend! 🙌

Copied (with permission) from a discworld group I’m in if anyone can help even if it’s just a share

#BookChallenge 1/20

10 Fave Animated Features Kiki's Delivery Service Spirited Away How to Train Your Dragon Kung Fu Panda Turning Red Lion King Nausicaa of the Valley of the Wind Kubo and the Two Strings Ratatouille Princess Mononoke

The Mefford Lab is #hiring, come join us! @hcmefford.bsky.social We have TWO positions open: (1) *Lead Researcher/Scientist* who will have the opportunity to lead 2D and 3D #epilepsy #genetics modeling to inform better targeted treatments for kids. 🧠🧬💜 talent.stjude.org/careers/jobs...

Here are other resources of *free* science illustrations: bioicons.com, scidraw.io, inkscape.org, biogdp.com They still look like BioRender style thou.

#FluorescenceFriday human excitatory neurons CTIP2 in red MAP2 in green and DAPI in blue

This brings another Desert Bus to a close. We had some amazing times, we made some incredible memories and we raised $1.25 Million for the children. For Hope. Orbspeed. Good Night. Good Luck. See you next year.

We were founded in 2020 and currently have more than 600 members from over 40 countries. How can you learn more or get involved? ❇️Read about our mission: An Atlas of Variant Effects to understand the genome at nucleotide resolution genomebiology.biomedcentral.com/articles/10.... 🦋1/4

Post doc position available in the Pearson lab jobrxiv.org/job/weill-co...

Today seems like a good day to share this Scientific American story on how vaccines have saved more lives throughout history than any other intervention www.scientificamerican.com/article/see-...

Apply to the Neurobiology course, that’s where the cool kids hang out. It’s one of the few opportunities you’ll get to truly explore the “fucking around” phase of science, where you try out creative projects and wild ideas, while surrounded with a ton of excellent faculty and students and resources.

New fascinating collaborative study by the Carvill lab and our colleagues. We already knew CHD2 haploinsufficiency causes NDD, but what happens when there is too much CHD2? www.nejm.org/doi/full/10....