Matt Holt
@holtjma.bsky.social
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Staff scientist at @PacBio; formerly @hudsonalpha; avid gamer; opinions are my own
pinned post!
We had a *major* update to MethBat v1 today in preparation for SPRQ-Nx release. This included a `pileup` sub-command for 5mC, 5hmC, and 6mA and extension of the existing functionality to support the additional base mods. Full notes here:
github.com/PacificBiosc...
19 days ago
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Alex Hoischen
3 days ago
Congrats to all co-authors from out HiFi-Solves EMEA consortium!
www.pacb.com/hifi-solves/
This study was driven particularly by the great
@bartvds.bsky.social
; with important contributions from Hanno Jörn Bolz Johannes Zschocke Malte Spielmann and their teams.
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The American Journal of Human Genetics
3 days ago
🧬New from
@ahoischen.bsky.social
& co! 📄HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
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HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
Long-read HiFi genome sequencing combined with Paraphase enables comprehensive detection of all clinically relevant variant types in paralogous genes. It resolves “dark” regions while enabling haploty...
https://www.cell.com/ajhg/abstract/S0002-9297(26)00186-2
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Following up on the major functional release of MethBat v1, we have had some more time to further optimize the tool and add some convenient features in v1.1. Run-time is *substantially* faster, especially if you're only looking for 5mC pileups! Update notes here:
github.com/PacificBiosc...
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5 days ago
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Heng Li
8 days ago
Jeremy Wang developed rammap, a minimap2 rewrite in Rust. It achieves comparable or better performance than minimap2 and produces identical output to minimap2. During rewrite, Jeremy found two long-existing bugs in minimap2 which are fixed in v2.31.
www.biorxiv.org/content/10.6...
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https://www.biorxiv.org/content/10.64898/2026.05.26.726289
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Katie Mack
9 days ago
It’s truly astonishing to see how comprehensively the US government is tearing down every part of the system that has made it up until now a world-leading power in science, research, and technological development. The entire world will suffer from this wanton destruction.
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We released an update for HiPhase today that has a large impact on wall clock time required for some samples, with negligible differences in accuracy and block lengths. Full release here:
github.com/PacificBiosc...
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Release HiPhase v1.7.0 · PacificBiosciences/HiPhase
Changes Added a limit to the WFA edit distance that scales with the length of the mapping. This reduces run-time in regions with short mapped fragments and high edit distance relative to the refer...
https://github.com/PacificBiosciences/HiPhase/releases/tag/v1.7.0
11 days ago
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Seth Stadick
11 days ago
In case you don't follow it already, reminder that this exists!
scientificcomputing.rs/monthly/
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Scientific Computing in Rust
the Scientific Computing in Rust annual workshop and monthly newsletter.
https://scientificcomputing.rs/monthly/
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Andrew Gallant
12 days ago
I've added an AI policy to ripgrep that was shamelessly copied from uv's policy. I plan to add this to the rest of my projects, but if anyone wants to offer feedback on wording, now would be a good time!
github.com/BurntSushi/r...
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https://github.com/BurntSushi/ripgrep/blob/f0cec341ab95c25c691ad3d5754d4bd9eedde21f/AI_POLICY.md
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Matt Holt
PacBio
12 days ago
SPRQ-Nx chemistry is now shipping worldwide, bringing sub-$300 HiFi genomes to the Revio platform! This global rollout cuts sequencing costs by 30%, making it easier than ever to scale high-throughput workflows Full press release here:
bit.ly/49HwmcL
#SPRQNx
#PacBio
#HiFisequencing
#Revio
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Matt Holt
NPR
13 days ago
Even with federal grants largely restored, scientists say the Trump administration is still preventing those funds from reaching them. The consequences, they say, are already becoming clear.
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Researchers say the Trump administration is finding new ways to punish science
Even with federal grants largely restored, scientists say the Trump administration is still preventing those funds from reaching them. The consequences, they say, are already becoming clear.
https://n.pr/4faEqGt
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We had a *major* update to MethBat v1 today in preparation for SPRQ-Nx release. This included a `pileup` sub-command for 5mC, 5hmC, and 6mA and extension of the existing functionality to support the additional base mods. Full notes here:
github.com/PacificBiosc...
19 days ago
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Matt Holt
madeline odent
21 days ago
I’m sorry but if you aren’t sure of a citation, whether what it means or that it exists… why are you citing it. why are you referring to something you haven’t read or don’t understand? that defeats the entire bloody point
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Matt Holt
Pathoplexus
29 days ago
1/ 🚀 Pathoplexus now supports the Andes variant of Hantavirus (ANDV). ANDV is the variant identified in the recent MV Hondius cases, & the Hantavirus variant previously identified as having occasional human-to-human transmission.
pathoplexus.org/andv
#hantavirus
#hondius
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The immediate action by so many states to make gerrymandering worse reveals just how awful of a ruling the SC made. Minorities will suffer most because of this.
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about 1 month ago
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Matt Holt
Carl T. Bergstrom
about 1 month ago
More details on the firing of the National Science Board. The NSF now has no director, deputy director, or board. They have issued almost no new awards in 2026. The plan appears to be to completely destroyed the agency. The details are horrifying and have Russ Vought written all over them.
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Board Ouster Raises Further Concerns About NSF’s Future
The White House axed all members of the board overseeing the National Science Foundation Friday, leaving the agency with no board, director or deputy director. It finally provided a reason Monday afte...
https://www.insidehighered.com/news/government/science-research-policy/2026/04/27/board-ouster-raises-further-concerns-about-nsfs
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Matt Holt
PacBio
about 2 months ago
Happening now at
#AACR26
! Visit
#PacBio
Poster 5510 to see Zev Kronenberg present a new way to hunt for microsatellite instability in long-read data. See how the "Owl" tool is advancing bioinformatics workflows for MSI detection. 📍 Section 4, Board 15 ⏰ Until 5 PM
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“Bioinformatics would be a more enjoyable field if more tools were written in Rust.” Shout it from the rooftops
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about 2 months ago
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Matt Holt
Ragnar {Groot Koerkamp}
about 2 months ago
Jeez... 6 in a day... this is gonna be so bad for the ecosystem long term. Even if none of these gains any traction, the name squatting and confusion/bloat that others will have to deal with just to figure out which crates are/are not serious is a pain.
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Emily J
about 2 months ago
Gifs and insults aside, science in general - including space science - is *incredibly* international. This is something we can do because we do it together.
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A. Marmot 🌱
about 2 months ago
congratulations to the astronauts who made it around the Moon and back *in spite* of having to use Microsoft Outlook in space
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Matt Holt
Dan Immergluck
about 2 months ago
Brutal.
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There is something implicitly funny about asking Cursor to write a skill that constrains it. "Hey buddy, you're going off the rails here. I need you to make up some rules for yourself so I don't have to keep rejecting your changes."
about 2 months ago
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Matt Holt
The Empty City
2 months ago
This is the ultimate test for a constitutional order. Either constitutional mechanisms are used to check and balance this, and remove him from office, or they are not. For there can be no greater test for any constitution.
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Emily Lakdawalla 🏳️⚧️ Uranus Expert
2 months ago
Oh, wow. So many other worlds visible in the background of the Artemis II view from eclipse, peeking out of the haze of the solar corona. Thanks
@tunctezel.bsky.social
for labeling!
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Absolutely incredible photos from yesterday event are showing up on the NASA website:
images.nasa.gov/details/art0...
2 months ago
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Matt Holt
Alex Spahn 🌋🌪️☄️
2 months ago
Absolutely incredible Nutella ad.
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Katie Mack
2 months ago
The NASA
#Artemis
II tracking website:
www.nasa.gov/missions/art...
It includes a nice moveable visualization of the Moon, the spacecraft, the Sun, and the Earth, so you can get a feel for the relative positions of them all.
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NASA: Artemis II
Artemis I will be the first in a series of increasingly complex missions to build a sustained human presence at the Moon for decades to come.
https://www.nasa.gov/missions/artemis-ii/arow/
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Meredith Rawls
2 months ago
Stop what you're doing and look 🌍 The full globe? That is the NIGHT SIDE. I'm pretty sure I can see some satellites/debris glinting away on the periphery. Also the Aurora?! What a bonkers beautiful world that supports and holds everyone and everything you've ever known and loved, and so much more.
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As a child, no one trained me for how often I would have to debug a toilet’s plumbing.
2 months ago
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We just released a patch to the database building component of StarPhase to handle upstream changes to the PGx database APIs. If you are using the provided StarPhase DB files, then no change is required. Full release notes here:
github.com/PacificBiosc...
2 months ago
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Matt Holt
Heng Li
3 months ago
Long reads carry multiple small vars and SVs and their phasing. LongcallD is the only caller that tightly integrates germline/mosaic small/structural vars/MEIs and their phasing in a single C program. One command line to get competitive small variant calls and better SVs. Led by Yan Gao.
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Matt Holt
Fulcrum Genomics
3 months ago
HGVS parsing sounds straightforward until you run it at scale across real clinical variants. We just released ferro-hgvs, a Rust-based parser/normalizer that processes millions of variants per second & handles many tricky edge cases other tools struggle with. 🔗
hgvs.acgt.bio
Details in blog post👇
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HGVS Normalizer - Powered by ferro-hgvs
https://hgvs.acgt.bio
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Matt Holt
Jeremy Wilkinson
3 months ago
Very excited for this MASSIVE
#metagenomics
project and can't wait to see everything that will be discovered!
#longreads
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Matt Holt
PacBio
3 months ago
At #ACMGMtg26? Our workshop starts in one hour! Join Nina Gonzaludo (PacBio) and Lucy Kaplun (Variantyx) in Exhibit Theater 2 to hear how #PacBio HiFi sequencing is streamlining diagnostics research and advancing clinical whole genome testing. Details:
bit.ly/3OBZmee
#ACMGMtg26
#PacBio
See you there soon!
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Matt Holt
PacBio
3 months ago
New preprint: Hunting for MSI in long-read data with Owl 🦉 Owl is an MSI caller purpose-built for #PacBio HiFi and integrated into our somatic workflow. Data: • Low baseline (~1–5%) • 15–18% MSI-H instability • Links GGAA repeats to EWS::FLI1 fusion Preprint here:
bit.ly/4beWECU
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Matt Holt
PacBio
3 months ago
Happening today at 12:15 PM! Join Matt Holt at #ACMGMtg26 for his talk on how #PacBio HiFi sequencing enables the discovery of pharmacogenomic haplotypes. 📍 Platform C ⏰ 12:15 PM Not attending? Learn more about StarPhase for HiFi PGx in this explainer video:
bit.ly/4b4ACUA
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Matt Holt
European Society of Human Genetics
3 months ago
🧬 ESHG Webinar Series – Season 2, Episode 3 📅 25 March 2026 | 16:00 CET 🎤 Lili Milani, University of Tartu 📊 Pharmacogenomic studies in the Estonian Biobank The webinar will take place via Zoom and is free to attend. 🔗 More information:
www.eshg.org/webinarseries
@eshgyoung.bsky.social
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Matt Holt
PacBio
3 months ago
Join #PacBio at #ACMGMtg26 to see how HiFi sequencing is redefining genetic testing. We are featuring two posters presentations: • P165: CFTR profiling using PureTarget panels (Billy Rowell) • P636: DNA extraction from low-mass samples (Deborah Moine) Full program here:
bit.ly/3OBZmee
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Rob Patro
3 months ago
I may play around a bit more tonight, but this is a good checkpoint:
github.com/COMBINE-lab/...
. All features implemented, unit and integration tests, dedicated aarch64 & avx2 backends, a driver CLI! Still a bit slower than the C version, but we're closing the gap quick!
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I’ll be presenting on long-read pharmacogenomics at
#ACMGMtg26
next week. Let me know if you want to connect while there!
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3 months ago
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Matt Holt
James Ferguson
3 months ago
Introducing kuva: A scientific plotting library in rust, along with cli binary with the option to plot directly into the terminal. Feel free to drop me some feedback as an issue on the repo
github.com/Psy-Fer/kuva
crates.io/crates/kuva/...
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Matt Holt
Robert McNees
3 months ago
There's a "is anyone even reading this" sort of honesty you get in the software update release notes from a project that's been around for a long time.
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Stephen Turner
3 months ago
Portello: Making global assembly more effective for rare-disease whole genome sequencing
www.biorxiv.org/content/10.6...
🧬💻🧪
github.com/PacificBiosc...
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Matt Holt
Chris Saunders
4 months ago
We demonstrate that variant calling shows improved accuracy given these assembly-based read mappings. For instance, given the same set of input reads, DeepVariant calling from portello-mapped reads shows a 47% reduction in errors compared to calls from a conventional mapping process. (3/5)
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Chris Saunders
4 months ago
What if you could improve small variant accuracy, CNV inference, and interpretability of your HiFi WGS data by taking a different approach to read mapping? Our new preprint describes portello, a method which demonstrates the potential for such improvements. (1/5)
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Adam Ameur
4 months ago
This looks really interesting
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Camille Marchet ⚡
4 months ago
Were you aware that these are available for the community: - an efficient fasta/q parser in Rust - a quick rolling hash library - a minimizer library All in Rust 🦀
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Julian Sanchez
4 months ago
So SCOTUS, with its fabricated-out-of-thin-air immunity doctrine, has actually made American presidents less accountable than LITERAL royalty.
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Steven Salzberg
4 months ago
So now the US is spending the enormous sum of $38 billion to build concentration camps? ICE is calling them "detention centers" but we know what they really are. I cannot believe my country would do this. Everyone should speak out against it
wapo.st/3OfarSk
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ICE plans to spend $38.3 billion turning warehouses into detention centers
ICE plans to spend $38.3 billion converting warehouses into detention centers, according to planning documents, more than the annual budgets of 22 states.
https://wapo.st/3OfarSk
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Mark Histed
4 months ago
In terms of what cures are being lost: - Epstein-Barr virus is perhaps the major trigger for multiple sclerosis - herpes simplex virus causes cold sores, genital herpes, infections in babies, deadly meningitis - shingles virus causes an intensely painful disease
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