Matt Holt
@holtjma.bsky.social
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Staff scientist at @PacBio; formerly @hudsonalpha; avid gamer; opinions are my own
pinned post!
We have released StarPhase v2.0! The key addition is support for PGx sub-allele definitions for genes from PharmVar. While we were in there, we made some other QoL upgrades as part of v2. Let us know what you think! Full release notes:
github.com/PacificBiosc...
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Release StarPhase v2.0.0 · PacificBiosciences/pb-StarPhase
Changes Database construction (pbstarphase build) has been updated to support sub-allele definitions from PharmVar Variants and alleles are now annotated as either being "core" or "sub" types By ...
https://github.com/PacificBiosciences/pb-StarPhase/releases/tag/v2.0.0
3 months ago
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Pam Herd
about 17 hours ago
The flu and pneumonia kill over 45,000 people a year. Moderna developed a new mRNA flu vaccine for people 50 and older--who are most at risk. Prasad, unilaterally, against the recommendation of experts within the agency, denied Moderna's appplication.
www.statnews.com/2026/02/11/m...
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Prasad overruled FDA staff to reject Moderna's flu vaccine application
The rejection is the latest instance of Vinay Prasad overruling career FDA scientists to place vaccines under harsher scrutiny.
https://www.statnews.com/2026/02/11/moderna-flu-vaccine-application-rejected-by-prasad-overruling-fda-staff/?utm_campaign=breaking_news&utm_medium=email&_hsenc=p2ANqtz-8NN2bscyCiklAgBYYsiCoonCk5DJEexi45Qpax2-7Cs-7MEniKDrK1AWQY4G6YvEq3Fc5sEhShsuhGk1AqqMab0yDnQQ&_hsmi=403155111&utm_content=403155111&utm_source=hs_email
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“Diplotypes were assigned using the pb-StarPhase algorithm, which was considered the gold standard for this study” 😎
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about 19 hours ago
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Lili Milani
about 23 hours ago
✨ A new star allele was born! Excited to share our first in vivo pharmacokinetic recall study involving 114 participants from @ESTbiobank with previously uncharacterised variants in CYP2C19 and CYP2D6:
www.nature.com/articles/s41...
#Pharmacogenomics
@pharmvar.org
@clinpgx.org
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Mrs. Detective Pikajew, Esq.
5 days ago
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John Greally
6 days ago
Please share this with your network: Postdoctoral position available in my group.
www.linkedin.com/jobs/view/43...
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Albert Einstein College of Medicine hiring Postdoctoral position studying functional non-coding variants in neurodevelopmental disorders, Bronx, New York City, USA c in New York City Metropolitan Area...
Posted 9:40:20 PM. A postdoctoral fellow position is open with 2 years of funding from the Simons Foundation Autism…See this and similar jobs on LinkedIn.
https://www.linkedin.com/jobs/view/4359896146/
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Randall Munroe
7 days ago
Groundhog Day Meaning
xkcd.com/3202/
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George Takei
13 days ago
This is a cover up of a murder, led by our own federal government.
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Needhi Bhalla 💅🏽
17 days ago
“We cannot pursue our mission to improve the health and well-being of all Americans while DHS agents are murdering, assaulting, and terrorizing people who call this country home…We believe ICE and CBP are a greater threat to the health of our nation than the lapse of HHS services.”
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Eric Topol
17 days ago
Point blank. 10-shots. Execution. A US citizen, a VA ICU Nurse. Then lying. Blocking a real investigation.
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Barack Obama
18 days ago
The killing of Alex Pretti is a heartbreaking tragedy. It should also be a wake-up call to every American, regardless of party, that many of our core values as a nation are increasingly under assault.
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Sherrilyn Ifill
18 days ago
I cannot imagine the devastation this family is experiencing today. This statement is powerful and must be read.
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Pete Buttigieg
18 days ago
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Jonathan Ladd
21 days ago
It’s currently operating totally outside of our constitutional rules. Habeas corpus , due process of law, equal protection, freedom of speech, 4th amendment protections against search and seizure, are all not being enforced in any common sense or meaningful way.
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Nathan Goldwag
21 days ago
I would argue that the case for dismantling ICE has, at this point, virtually nothing to do with larger questions of immigration enforcement and reform, it's just clearly incompatible with a free and democratic society to maintain a secret police force with sweeping and arbitrary authority.
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Randall Munroe
22 days ago
How long would you survive with no DNA? What the latest What If? video in collaboration with
@minuteearth.bsky.social
!
www.youtube.com/watch?v=s3oL...
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How long would you survive with no DNA?
YouTube video by xkcd's What If?
https://www.youtube.com/watch?v=s3oLIDaElaE
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We just released a fairly substantial update to HiPhase that enables (beta) support for RNA (isoseq) datasets. There are some incidental improvements to WGS phasing as well! Full release notes here:
github.com/PacificBiosc...
23 days ago
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Matt Holt
Alex Hoischen
24 days ago
1,000 PacBio genomes in a prospectively designed clinical utility study. This was the biggest and most important study that made us go live in diagnostics. Long-read genomes as a genetic first tier test across many rare diseases!
www.medrxiv.org/content/10.6...
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Clinical long-read genome sequencing for rare disease diagnostics
Background Diagnostic evaluation of rare genetic disorders continues to rely on multiple test modalities, despite the increasing use of short-read exome or genome sequencing as first-tier tests. Long-...
https://www.medrxiv.org/content/10.64898/2026.01.13.26343759v1
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Matt Holt
Tim Onion
26 days ago
Block instantly.
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Finally found time to play expedition 33… what an absolutely phenomenal experience! (Just ended act 2 for those who have played)
27 days ago
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Heng Li
29 days ago
I am looking for a postdoc to develop high-performance algorithms in computational genomics. Email or DM me if interested. For more information, see
hlilab.github.io/vacancies
. RTs appreciated!
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HLi Lab - Vacancies
Openings
https://hlilab.github.io/vacancies
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Mitchell R. Vollger
about 1 month ago
I am hiring a staff bioinformatician for my new lab at the University of Utah! Please consider applying if you are on the hunt:
employment.utah.edu/salt-lake-ci...
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Jobs | University of Utah
Founded in 1850, The University of Utah is the flagship institution of higher learning in Utah, and offers over 100 undergraduate and more than 90 graduate degree programs to over 30,000 students. Uni...
https://employment.utah.edu/salt-lake-city-ut/research-informaticist/8FFEE8A533D84DD2B6FAECAD354F7851/job/
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Matt Holt
Aaron Reichlin-Melnick
about 1 month ago
NEW: Data released by ICE shows that virtually the entire growth of detention in the last few months has been among people with no criminal record at all - no prior convictions (no matter how minor) and no pending criminal charges.
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I feel like no matter how many times I build a tool with multi-threading, I will always build it sub-optimally the first time... (bonus: it's often the first *few* times 🫠)
about 1 month ago
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Mehdi Hasan
about 1 month ago
A reminder - before Trump, MAGA, Musk and Fox rewrote history - that this is what the entire country agreed had happened five years ago today:
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southpaw
about 1 month ago
That is a lot of news to wake up to.
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Alex I. Thymia
about 2 months ago
we reproduce asexually, releasing clouds of spores at certain points in our lifecycles, like some species of fungi
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Randall Munroe
about 2 months ago
Funny Numbers
xkcd.com/3184/
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There's an opening in our CompBio group at
#PacBio
. Apply below if you're interested in method / tool development for long-read sequencing applications!
#Bioinformatics
pacbio.wd12.myworkdayjobs.com/PacBio-/job/...
2 months ago
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Javier Santoyo
about 2 months ago
CiFi: accurate long-read chromosome conformation capture with low-input requirements.
#HiFi
#LongRead
#Sequencing
@natcomms.nature.com
🧪🧬 🖥️
www.nature.com/articles/s41...
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There's an opening in our CompBio group at
#PacBio
. Apply below if you're interested in method / tool development for long-read sequencing applications!
#Bioinformatics
pacbio.wd12.myworkdayjobs.com/PacBio-/job/...
2 months ago
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Steven Salzberg
2 months ago
I can't stay quiet about what RFK jr is doing to the CDC and FDA:
stevensalzberg.substack.com/p/dont-trust...
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Don't trust the CDC while RFK Jr. is in charge
The HHS secretary, a notorious anti-vaxxer, is now posting his crank views on CDC's website
https://stevensalzberg.substack.com/p/dont-trust-the-cdc-while-rfk-jr-is
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At the start of the year, did anyone predict k-pop as a featured part of the macys thanksgiving day parade?
3 months ago
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If you're looking to use some of aardvark's functionality in your own code, we've made aardvark available on
crates.io
for easier access under the `aardvark-bio` name:
crates.io/crates/aardv...
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crates.io: Rust Package Registry
https://crates.io/crates/aardvark-bio
3 months ago
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Brandy Schillace
3 months ago
Gotta say, it’s a hard time to be a historian of medicine whose focus was pre-antiseptic / pre-vaccine era.
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We have released StarPhase v2.0! The key addition is support for PGx sub-allele definitions for genes from PharmVar. While we were in there, we made some other QoL upgrades as part of v2. Let us know what you think! Full release notes:
github.com/PacificBiosc...
loading . . .
Release StarPhase v2.0.0 · PacificBiosciences/pb-StarPhase
Changes Database construction (pbstarphase build) has been updated to support sub-allele definitions from PharmVar Variants and alleles are now annotated as either being "core" or "sub" types By ...
https://github.com/PacificBiosciences/pb-StarPhase/releases/tag/v2.0.0
3 months ago
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Alex Hoischen
3 months ago
Long-read genome sequencing is new first-tier generic test in diagnostics of rare diseases So satisfying to see a long journey end in best-possible diagnostic test for patients with rare diseases
@radboudumc.bsky.social
.
www.radboudumc.nl/en/news-item...
(1/n)
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World first: Radboudumc pioneers new genetic test in clinical practice - New test is faster, more efficient, and provides more diagnoses for rare diseases
17 November 2025
https://www.radboudumc.nl/en/news-items/2025/world-first-radboudumc-pioneers-new-genetic-test-in-clinical-practice
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Ryan Hall, Y’all
3 months ago
Over Lansing, MI!
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Taniel
3 months ago
What we know, final edition of the night: [Now in 3 parts] —Prop 50 wins —VA Dems flip Gov, LG, AG —Dems gain leg seats in VA, NJ, & MS —Dems defend NJ-Gov —Dems win NJ+VA trifectas —Mamdani wins —PA Dems win state supreme court —ME anti-mail voting measure loses —GA Dems flip 2 statewide offices
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Looking at code from 12+ months ago always feels like the uncanny valley of code self-review. There's evidence of my coding fingerprint, and I *know* I wrote the code, but it's not quite how I would do it today.
3 months ago
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Matt Holt
Titus Brown
4 months ago
About half the GigaScience editorial board (incl me) just resigned (
academic.oup.com/gigascience/...
is not yet updated). I resigned because it is very unclear what is happening and why - see
@scedmunds.bsky.social
blog post
gigasciencejournal.com/blog/and-its...
, for eg
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Editorial_Board
Editorial Team Editor-in-Chief Xun Xu, PhD; BGI Research, Shenzhen, China Executive Editor Hongling Zhou; GigaScience Press, BGI Shenzhen, China Edito
https://academic.oup.com/gigascience/pages/Editorial_Board
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Ryan Hall, Y’all
4 months ago
Hurricane Melissa is the THIRD Category 5 storm of 2025, tying the record set by the legendary 2005 season. And get this, 80% of this season's hurricanes have reached Category 4 or 5 strength. That's the highest percentage in Atlantic history.
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Liz Tseng
4 months ago
Want a rare look inside
@pacbio.bsky.social
facility and hear how customers use HiFi for HLA typing and PGx? We made a 6-min documentary this summer. Check it out!
www.youtube.com/watch?si=nXb...
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Advancing human health with HiFi long-read sequencing
YouTube video by PacBio
https://www.youtube.com/watch?si=nXbLfZ1sttMCCRth&v=Ym-nNpPM5vg&feature=youtu.be
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Our first major update for Aardvark since the pre-print is now available. We added an optional "record basepair" score type which may better match historical tandem repeat metrics, and also made some of the less-used metrics optional as well. Full release notes here:
github.com/PacificBiosc...
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Release Aardvark v0.9.0 · PacificBiosciences/aardvark
Changes Adds the optional RECORD_BP comparison type to all summary files. Review our methods for details on this metric. This metric is enabled with --enable-record-basepair-metrics. The GT and BA...
https://github.com/PacificBiosciences/aardvark/releases/tag/v0.9.0
4 months ago
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I think I just found my first AI generated preprint on bioRxiv. Unclear methodology, invalid citations, and dead links. Are these supposed to get reported somewhere?
4 months ago
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Matt Holt
G Elliott Morris
4 months ago
Good evening. We estimate that between 4.2 and 7.6 million people turned out for the No Kings Day demonstrations held around the country on Saturday. This makes Oct 18 very likely the biggest single-day U.S. protest event since 1970.
www.gelliottmorris.com/p/second-no-...
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Second "No Kings Day" protests likely the largest single-day political demonstration since 1970, with 4.2-7.6 million participants
Here are the initial results from our crowdsourced crowd-counting estimates
https://www.gelliottmorris.com/p/second-no-kings-day-protests-likely
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I should have stayed an extra day after
#ASHG25
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4 months ago
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Matt Holt
PacBio
4 months ago
Our third #ASHG25 CoLab begins in one hour at 10:15 am in Theater 1! Hear from #PacBio and
@epicypher.bsky.social
#ASHG25
#PacBio
n Fiber-seq epigenomics for integrated chromatin, genome, and methylome insights, plus Revio workflow updates and big announcements on what’s next for
#Revio
and
#Vega
in 2026 👀.
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I’ll be presenting a poster on Mitorsaw for
#PacBio
HiFi mitochondrial analysis today! Come see me this afternoon at
#ASHG25
poster #4050 to chat about that or other topics!
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4 months ago
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Michael Hoffman
4 months ago
Eric Green receiving the ASHG Leadership Award. Talks about being the first institute or center director to lose his leadership role. Said that he failed to doge the bullet.
#ASHG25
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Claudia Gonzaga-Jauregui
4 months ago
ASHG Plenary Session starting with the awards ceremony honoring Eric Green with the Leadership Award of
@geneticssociety.bsky.social
reflecting on his career in human genetics & genomics leading the Human Genome Project & the NHGRI and the leadership principles he has learned throughout
#ASHG25
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