Joe Pickrell

I'm hiring a team to build products based on the world's largest collection of genomics, proteomic, and medical record data -- reach out for more information and please share widely! careers.regeneron.com/en/jobs/r44966…

The worlds first performance horse prediction model based on full genome sequencing of some of the most elite horses in the world People regularly pay $100k+ for horses, its crazy that no one knows the genetics. Horses just went from a speculative asset to a data backed asset

Highly recommend the new Approved podcast from @alexkesin and Matthew Pech -- episode 1 has the fascinating history of Amylin Pharmaceuticals and the first GLP-1 drugs approved.fm/p/episode-1-am…

We’re excited to announce the launch of Gencove Consumer! $49 for a sequencing-based genetic baseline. Built for individuals who want to better understand their health and for a future where genetics is standard in every consumer health product. 👇 enterprise.gencove.com/blog/introduci…

Today we’re announcing an algorithmic breakthrough. Herasight’s ImputePGTA algorithm has enabled couples around the world to access polygenic embryo testing from routine IVF data (PGT-A). Now it yields substantially higher accuracy, especially for underrepresented ancestries

@joe_pickrell It’s a different tier of self experimentation when you hire a small army of PhDs and fund a thicket of therapeutics companies. I do think the future will have many cases like this, a bit more streamlined since not every wealthy patient family is outlier agentic like Sid

@hfinn000 Yep osteosarc.com

@joe_pickrell This is a long read and I could not find the data screen link you attached to the tweet. Could you provide the data link please? Thanks!

Fascinating story of how a GitLab cofounder is self-experimenting (with at least some success) on his cancer with no existing 'standard of care' treatment centuryofbio.com/p/sid

Preprints of pandemic potential - new historical piece from me on the history of bioRxiv/medRxiv, their role in the pandemic, and the way forward. journals.asm.org/doi/10.1128/mb… 1/n

Learned today that public universities use indirect costs from NIH grants as collateral to back loans for expanding campuses. If indirect costs are significantly cut, could result in some interesting scenarios for the groups/banks making the loans.

Rare variants in spliceosome RNAs are a major cause of neurodevelopmental disorders ... now also found to be a cause of a vision disorder "De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa" nature.com/articles/s4158…

Interesting paper showing rare highly-penetrant variants are enriched among people with 'unusual' phenotypes given their polygenic scores. E.g. Marfan syndrome genes enriched in tall people with a 'short' polygenic height score medrxiv.org/content/10.648…

New post! There was a lot of innovation in medicine and biomedical research this year, and I've tried to summarize the biggest ones in this blogpost. Medical breakthroughs in 2025: scientificdiscovery.dev/p/medical-brea…

I've been thinking about the "virtual cell" concept and wanted to write up a few thoughts. Specifically on how I think the prior experience in GWAS informs the most likely way these models will be useful. andrewcarroll.github.io/2025/12/23/the…

Our latest preprint revisits the classic model of mutation-selection balance. Do human recessive genes fit Haldane's 100-year old model? This work is by the wonderful Jon Judd, and co-mentored by Jeff Spence.

A new GWAS resource of REM sleep behavior disorders, often considered a prodromal syndrome of Parkinson's disease & Lewy body dementia👇 The top locus being SNCA —encoding α-synuclein, the protein accumulated in Parkinson's disease & Lewy body dementia— confirms this.

APOE4 as a risk factor for delirium, seemingly independent of its effect on dementia risk nature.com/articles/s4358…

This went live today, on Thanksgiving, which feels quietly special. This article is about one of my favorite topics: how human genetics is being used to shape drug development. It’s a synthesis of ideas and lessons that have emerged over many years, brought together into a single narrative. I’m grateful for the opportunity to give structure to these thoughts — and excited about where human genetics–driven drug development is headed next. The future here feels genuinely promising. Many thanks to the editors at @WorksInProgMag — @bswud and @salonium — for the opportunity and for helping edit this article into its best possible version. Hope you enjoy this light read on Thanksgiving Day :) 🧬 Nature’s laboratory worksinprogress.co/issue/natures-…

Most GWAS data come from adults. An amazing new resource from Japan (JECS) offers GWAS data on 1,148 traits from a birth cohort of 80,638 children. The traits range from pregnancy and neonatal outcomes to childhood diseases, and serial lab work, and anthropometrics.