dgmacarthur.bsky.social - Profile | ThreadSky | a Reddit-style client for Bluesky

Hey Australian genetics/genomics friends: the OurDNA Symposium will be in Sydney on 14 August, just before the HGSA meeting. Learn more about inclusive recruitment for genomics and get a preview of the OurDNA variant browser! events.humanitix.com/ourdna-sympo...

submitted 2 days ago • 0 comments

I wrote a new piece on how much progress has been made in treating childhood leukemia. The answer is: quite a lot! Before the 1970s, fewer than 10% of children diagnosed survived 5 years after diagnosis. Now most are cured and around 85% survive that long. ourworldindata.org/childhood-le...

submitted 16 days ago • 5 comments

I worry that not enough of a big deal is being made about how long-term the devastation of these budget cuts to our scientific and health agencies will be, beyond the absolute ruin they will cause in the acute period.

submitted 21 days ago • 49 comments

Flybase lost all of the NIH support overnight - it is a disaster for the community. Please consider donating. I just did! www.philanthropy.cam.ac.uk/give-to-camb...

submitted 21 days ago • 2 comments

Jesus. Excellent work by Michael Le Page, and utterly infuriating scenario. As Michael points out, the press release from Colossal called these dire wolves throughout. But now they want to argue that they never claimed that. Scandalous, really. www.newscientist.com/article/2481...

submitted 33 days ago • 19 comments

Excited to be in Milan for #eshg2025! If you’re interested in leading analysis of large, diverse cohorts with WGS and cellular genomic data in Australia, I’d be keen to chat - we’re looking to fill a variety of senior comp bio roles: populationgenomics.org.au/careers/ #eshg25

submitted 32 days ago • 0 comments

🤗 Hugely excited to share our work on automating iterative reanalysis in #raredisease, preprint out: www.medrxiv.org/content/10.1... 🤖🧬 github.com/populationge... A superb collaboration with @dgmacarthur.bsky.social @cassimons.bsky.social @heidirehm.bsky.social @ksamocha.bsky.social and many more!

submitted 33 days ago • 1 comment

The Cambridge Companion to Workday The Routledge Handbook of Dual-Factor Authentication The Oxford Handbook of Figuring Out How To Add A Signature To This PDF, Why The Hell Is This So Difficult

submitted 37 days ago • 3 comments

This is the best graph I've seen in a while 📊

submitted 38 days ago • 21 comments

What happens to science under autocracy? The rise of the National Socialist Party in 1930s Germany provides an (admittedly extreme) example. Prior to the early 1930s, scientists at German institutions won a third of Nobels. 10 years later, that number was 5%, and has never recovered.

submitted 39 days ago • 14 comments

KJ Muldoon, a 9½-month-old boy with a rare condition, made medical history by receiving the first custom gene-editing treatment. The technique used has the potential to help people with thousands of other uncommon genetic diseases. Read more: nyti.ms/44H77pg

submitted 40 days ago • 24 comments

Yesterday, the NIH R35 “Outstanding Investigator” grant to fund scientists in my lab studying antibiotic resistance was terminated for reasons not related to the content of the science, or any actions taken by me or members of my lab

submitted 42 days ago • 146 comments

Release of DeepVariant and DeepSomatic v1.9 DV: Now train on HG002 T2T-Q100. Error reduction of 12% for Illumina and 30% for PacBio on this truth set. 25% faster. DeepTrio is 5x faster (20h -> 4h). DS: New models FFPE_TUMOR_ONLY for {WGS, WES}. Much improved WGS models. github.com/google/deepv...

submitted 42 days ago • 1 comment

As grant money starts drying up, it's more important than ever not to waste it on paying publishers' open access "article processing fees" when we can host PDFs for free. Tom Morgan and I wrote a paper on this, forthcoming at Science and Public Policy. Accepted draft here: osf.io/preprints/os...

submitted 46 days ago • 9 comments

Weird intersection of math & centrifuge balancing: Visual proof that it's possible to balance a 24-position centrifuge rotor for any number of equally-filled tubes EXCEPT 1 and 23. Some of these are anxiety-inducing, though. (🧑‍🎨: aliyoh, labrats subreddit)

submitted 48 days ago • 15 comments

These boxes are not moving. A mind-bending optical illusion by Japanese artist Jagarikin.

submitted 49 days ago • 274 comments

Our new contribution to the quest to find causal GWAS genes! Sam Ghatan from my lab at @nygenome.org led a systematic comparison of eQTLs and CRISPRi+scRNA-seq screens. TL;DR: they provide highly complementary insights, with ortogonal pros and cons. 🧵👇 www.biorxiv.org/content/10.1...

submitted 49 days ago • 1 comment

New preprint! My (now former) postdoc @kvastad.bsky.social led this integration of GWAS and spatial transcriptomics (ST) data to identify tissue structures with enrichment of disease-implicated genes = likely causal drivers of disease biology. www.biorxiv.org/content/10.1...

submitted 51 days ago • 4 comments

Two things that are true at the same time: 1. The massive cuts to science funding in the US is a terrible blow that can't be patched by efforts elsewhere. 2. It's great that the EU and many individuals countries are stepping up; it helps science and many US scientists willing/able to relocate.

submitted 50 days ago • 1 comment

1/n 🚨Very excited to share our recent work!🚨 To understand gene regulation across diverse environmental conditions and cellular contexts, we treated a broad array of human cell types with three environmental exposures in vitro. www.biorxiv.org/content/10.1...

submitted 50 days ago • 3 comments

I think a lot about what Carl Sagan said in one of his final interviews.

submitted 52 days ago • 249 comments

🎉 This paper has been a long time and a labour of love (and hardship) for multiple group members, but, finally: we MPRA'ed 25k introgressed variants (Denisovan and Neanderthal) segregating at allele frequencies > 0.15 in humans today to evaluate their potential to regulate gene expression.

submitted 51 days ago • 5 comments

Talk about impactful: ReNu syndrome linked to the RNU4-2 variation was discovered this time last year & now a global community has grown around those affected by the disease: www.renusyndrome.org/map

submitted 56 days ago • 1 comment

Very excited to share our preprint led by M. Levin @skoyama.bsky.social J. Woerner & with S. Damrauer assessing genome-wide pleiotropy of >1,000 clinical traits across ~1.7M individuals with nearly 30K locus-trait associations! www.medrxiv.org/content/10.1... @medrxivpreprint.bsky.social

submitted 63 days ago • 3 comments

Just a little update for the busy, from the world of science: 1) There's no life on K2-18b 2) Vaccines cause adults 3) They are not Dire Wolves Carry on.

submitted 69 days ago • 33 comments

An astonishing headline reporting on new observations from a team led to Nikku Madhusudhan claims they’ve found ‘hints of life’ on a planet orbiting a dwarf star some 124 light years away. What’s going on? (1/n) www.bbc.co.uk/news/article... 🔭 🧪

submitted 69 days ago • 26 comments

What does openRxiv mean for bioRxiv/medRxiv? How did biologists embrace preprints? And what's the future of the scientific article? Fun talking with @jontytownson.bsky.social at #biologists100 www.youtube.com/watch?v=L5O2...

submitted 70 days ago • 0 comments

its amazing how chatgpt knows everything about subjects I know nothing about, but is wrong like 40% of the time in things im an expert on. not going to think about this any further

submitted 109 days ago • 90 comments

The bipartisan belief that America would be a better place if other people worked in a factory. www.ft.com/content/8459...

submitted 72 days ago • 248 comments

Not only is this seriously elegant science from @gregfindlay.bsky.social, @nickywhiffin.bsky.social and friends - using saturation editing to define variant impact in RNU4-2 - it also defines another new syndrome associated with this fascinating non-coding RNA gene.

submitted 75 days ago • 1 comment

This is an awesome opportunity to do large-scale genomic data science with direct, meaningful impact on the lives of patients. This program has already returned over 450 genetic diagnoses to families affected by rare genetic disease; help us help more families!

submitted 75 days ago • 0 comments

Are you an experienced Bioinformatician looking to make a real-world impact for families living with rare disease? Love team science and working at scale? Remote-first (NSW, VIC or QLD). Join me, @dgmacarthur.bsky.social, and the CPG Rare Disease Program: career10.successfactors.com/career?caree...

submitted 75 days ago • 0 comments

This is an awesome opportunity to do large-scale genomic data science with direct, meaningful impact on the lives of patients. This program has already returned over 450 genetic diagnoses to families affected by rare genetic disease; help us help more families!

submitted 75 days ago • 0 comments

Economic uncertainty update: The thing about veering wildly between policy positions, favouring and then discarding a new maverick advisor each week, and using contradictory justifications at every turn, is that even if one particular pivot is in the direction of sanity, chaos is the constant.

submitted 76 days ago • 38 comments

Biggest commitment to a 3 second joke I've ever seen

submitted 77 days ago • 883 comments

🧵🐺🧬 An important point is getting lost in the discussion abt today's "deextinction" news: Colossal is not just claiming to have created something akin to a dire wolf. They claim they've made new/unpublished genetic discoveries that would rewrite our understanding of dire wolf evolution & anatomy 🧪

submitted 78 days ago • 4 comments

So I guess Jurassic Park in real life would be billions in VC investment and years of press releases followed by a tank containing five deformed iguanas

submitted 78 days ago • 18 comments

It's not a dire wolf. It's a gray wolf clone with 20 dire-wolf gene edits, and with some dire wolf traits. And here's my story! Gift link: www.nytimes.com/2025/04/07/s...

submitted 78 days ago • 70 comments

There is still time to submit a breaking abstract for #eshg2025.

submitted 78 days ago • 0 comments

At this rate MAGA will only be able to afford to rent the libs.

submitted 79 days ago • 310 comments

Reckon we still have a while before ChatGPT replaces genetic counselors

submitted 81 days ago • 6 comments

This a sign of the dark times in which we live & I'm not bragging about it. My team posted an open position for an industry research scientist and we got 20 times the response rate in the 1st week we normally would & the seniority of the applicants was way higher than the norm. All from academia.

submitted 90 days ago • 8 comments

"This essay introduces the term hardware lottery to describe when a research idea wins because it is suited to the available software and hardware and not because the idea is superior to alternative research directions." arxiv.org/abs/2009.06489

submitted 93 days ago • 1 comment