I have been listening to the Hubermann-JB podcast. It is 4 hours, so it will take some time to finish, but here are some thoughts...

Regeneron picks up the 23andMe dataset -- one of the best possible outcomes, I think. REGN has a stellar track record of handling patient data responsibly and effectively, e.g. UK Biobank, Geisinger Health.
www.biopharmatrend.com/post/1252-re...

www.savensf.com/take-action

Bio foundation models are great design and engg tools. But can they help decode the fundamental principles of life?

We harnessed a single-cell FM for decoding the long-debated relationship between genome arch. and gene coregulation. 1/

Preprint here: www.biorxiv.org/content/10.1...

A district court has struck down the FDA's Final LDT rule, which would have required clinical test developers to navigate full FDA IVD approval to bring new products to market -- a much tougher bar to clear.

Tl;dr: Diagnostics biz isn't dead.

Source: www.courtlistener.com/docket/68802...

Element Bio says this on-instrument hybrid capture approach can bring total library prep time down from 12-24 hours to as little as 5 hours (before sequencing). That faster TAT should be great for NGS diagnostics.

The GBCC2025 Scholarships are here! Thanks to the JXTX Foundation and Galaxy Project, 4 genomics and data science graduate students will receive scholarships to attend GBCC2025 in person.
📅 Apply by April 1, 2025

👉 jxtxfoundation.org/news/2025-2-...

Roche deems Spark Therapeutics, a flagship gene therapy company, has fizzled with a US$2.4bn write-off. Luxturna didn't sell well, surprisingly.

I hadn't thought gene therapies were in a bubble but it seems like a broader correction is happening. www.fiercepharma.com/pharma/roche...

New preprint! We worked with @msftresearch.bsky.social and @broadinstitute.org to see whether large language models (LLMs) can be useful to variant scientists in deciding whether genetic variants seen in a patient are responsible for their disease. tl;dr yes they can: www.biorxiv.org/content/10.1...

What a great resource! Python developer tooling has matured a lot over the past decade.

LAAVA 4.0 is out! Get the latest on GitHub:
github.com/formbio/laav...

Long-read AAV Analysis (LAAVA) is an open-source bioinformatics pipeline that reports on AAV vector genome integrity using a standardized, published nomenclature and read classification scheme. 🧵

Big news: we are setting up a new non-profit organization to run bioRxiv and medRxiv. It's called openRxiv [no it's not a new preprint server; it's dedicated organization to oversee the servers] openrxiv.org 1/n

How I pick a bioinformatics tool to start:
- Check nf-core -- is there a pipeline I can use as-is? If not, what tools are used inside other relevant pipelines?
- Check the methods of studies similar to what you're trying to do -- not searching methods papers themselves initially, but who used them

Because a lot of people had problems registering for the @RocheSequencing seminar about their new SBX sequencer , they made it easier to join . Here is the link : streamingmedia.roche.com/id/1_arrcrfhm

Agentic AI coding is leading to some new software development best practices: Keep projects small and modular to fit within the context window. Start with a good PRD. If the initial architecture is wrong, just start over. Use distinct, unambiguous names or the AI will get confused.

Cline.bot and Replit are not really like a senior dev or a team of junior devs. They're amazing and a good fit for the needs of one-off web app development. They struggle with legacy and maintenance, as we all do, and they have their own unique quirks.

Eleven years after Roche acquired Genia's nanopore sequencing tech, we see what they're up to: short-read sequencing competitive with Illumina and Ultima on price, throughput, and quality.

Biology never gets boring.
www.pnas.org/doi/10.1073/...