John Didion, PhD (🧬/🦀)
@jdidionAbsolute binf. Director @fulcrumgenomics. Solely responsible for my own hot takes.
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Benchtop HiFi: PacBio Unveils Vega 🧬🖥️ omicsomics.blogspot.com/2024/11/bencht…
Both of these teams are so good…it’s just that the Warriors are better.
I'll be there with my #Rust -colored glasses! Send me a DM if you'd like to meet up.
John Didion and Tim Fennell from the Fulcrum Genomics LLC team will be at #ASHG2024 in Denver from November 5-9. Drop us a line if you’d like to connect in person! #ASHG24 #HumanGenetics #Bioinformatics #Genomics #NGS
If you are turned away at the polls- your verbatim response is: "Give me a provisional ballot with a receipt as required by law." Pass it on.
After nearly six months waiting for review, our extension to vcfdist was finally published in BMC Genome Biology this week! genomebiology.biomedcentral.com/articles/10.11…
A 90-95% failure rate in clinical trials has a way of wearing you down tho. Statistically most scientists working on the discovery side will go their entire careers and never work on a project that leads to a marketed drug. There’s no equivalent of this in tech that I know of
Why is biotech such a sad industry? They make medicine, it output feels 10x more important than automation and info-plumbing (aka the tech industry) and requires deeper knowledge/training -- and yet, low salaries, perpetual layoffs, very few founder CEOs, bad vibes all around.
Jointly benchmarking small and structural variant calls with vcfdist genomebiology.biomedcentral.com/articles/10.11… 🧬🖥️ github.com/TimD1/vcfdist
What a joy writing in Rust is after weeks of Python! Programming without static types now feels 10% harder.
Extensive WGS for 1st @NIST GIAB tumor cell line, consented for public genomic data doi.org/10.1101/2024.0…. PDAC tumor/normal pair with data from @nanopore @PacBio's HiFI&Onso @illumina @ElemBio @UltimaGenomics @bioskryb @ArimaGenomics @PhaseGenomics @bionano @KromatidInc
Yes to "1st class". Benchmarking needs a reputation boost. It can be as conceptually and theoretically challenging as method development. Defining what the question is can be the greater intellectual effort than finding its answer.
How it started: blog.latch.bio/p/native-snake… How it’s going: linkedin.com/posts/alfredoa… @PaoloDiTommaso your head must be spinning!
NIH finally allocates funding for improving and maintaining software. - R03, budget $300k over 2 yrs - Due 12/4/24; 6/4/25 - RFA-OD-24-010 - Building Sustainable Software Tools for Open Science grants.nih.gov/grants/guide/r…
This dropped hearing aid prices by 90%+. Countless people who couldn’t afford hearing aids can hear now. Biden has done a ton of stuff like this. Don’t listen to the doomposters who tell you it doesn’t matter who’s in office. It does.
This Apple hearing aid feature exists because the government broke a hearing aid cartel with an FDA rule whitehouse.gov/briefing-room/…
Now out early online in Genetics (@GeneticsGSA): academic.oup.com/genetics/advan…
What’s up dawg.c
* Source code: github.com/lh3/ropebwt3 * Prebuild indices: zenodo.org/records/115332…
Exciting news! We are launching a global community for techbio nerds — both online and in-person. If you are a scientist, PM, computational biologist, or academic working on AI and software in bio, join us on Slack and at local meetups!🧬✨ join.slack.com/t/techbiotrans…
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𝕐 (@[email protected], @robp.bsky.social)
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