Author | Lightnews

Reposted by Rhett Rautsaw

PacBio @pacbio.bsky.social · 14d

SPRQ-Nx is coming to #Revio next year. It is expected to reduce whole genome sequencing costs by up to 40% to $300–$350 per genome or lower at scale.

#PacBio #ASHG25 #HiFisequencing #ASHG

2 7

Reposted by Rhett Rautsaw

PacBio @pacbio.bsky.social · 15d

The #PacBioBlockParty is in full swing 🎉 Guests are rolling in, the music’s on, and the fun’s just getting started! Virtual darts, bowling, food, a live DJ, and more await. Let’s celebrate together!

#ASHG25 #PacBio #ASHG

2 9

Reposted by Rhett Rautsaw

Keith Robison @omicsomics.bsky.social · 17d

PacBio: $300 Genome Via Chemistry Update 🧬🖥️

omicsomics.blogspot.com/2025/10/pacb...

PacBio: $300 Genome Via Chemistry Update

ASHG is here in Boston, just down the street from Ginkgo's HQ. I'm in a new role in Ginkgo Automation, trying to convince the NGS world tha...

omicsomics.blogspot.com

9 22

Rhett Rautsaw @reptilerhett.bsky.social · 16d

Short reads…who needs em? Start bringing ALL your NGS projects into the long read era with cheaper sequencing, simultaneous methylation, greater insights, and more answers to your biological questions. PacBio’s got you covered.

1 2

Reposted by Rhett Rautsaw

PacBio @pacbio.bsky.social · 23d

Just in: #PacBio HiFi long-read sequencing is powering the National Institute on Aging’s Long Life Family Study.

Up to 7,800 genomes and epigenomes will be sequenced on Revio systems to uncover rare variants, methylation patterns, and other factors linked to healthy aging.

🔗 bit.ly/3IUDdFo

3 5

Reposted by Rhett Rautsaw

Matt Holt @holtjma.bsky.social · 18d

I'm heading to Boston for #ASHG25 tomorrow, let me know if you'd like to chat about using HiFi sequencing for mitochondrial analyses, pharmacogenomics, or anything else!

ICYMI, also happy to discuss our new Aardvark tool for benchmarking :)

Matt Holt @holtjma.bsky.social · 24d

I'm excited to share our pre-print about a new variant benchmarking tool we've been working on for the past few months!

Aardvark: Sifting through differences in a mound of variants
GitHub: github.com/PacificBiosc...

Some highlights in this thread:
1/N

1 1 9

Reposted by Rhett Rautsaw

Matt Holt @holtjma.bsky.social · 17d

We just released a major update for StarPhase that adds support for inexact matching PGx alleles. We're hoping this streamlines the process for discovering novel allele combinations with #PacBio #HiFi data, feedback welcome!

Full notes here: github.com/PacificBiosc...

#ASHG25

Release StarPhase v1.5.0 · PacificBiosciences/pb-StarPhase

Changes Adds a new field to the output json, inexact_diplotypes. This field is intended to capture information about inexact allele matches. The behavior of this output depends on the gene: For s...

github.com

1 4

Reposted by Rhett Rautsaw

Shelly Gaynor @shellygaynor.bsky.social · 17d

Updated tutorials for nQuack today. Want to predict ploidy level of sequence data? See this new tutorial on how to process and model data faster: mlgaynor.com/nQuack/artic...

a little boy is driving a red toy car on the street .

Alt: a little kid is driving a red toy car on the street.

media.tenor.com

1 11 14

Reposted by Rhett Rautsaw

PacBio @pacbio.bsky.social · 24d

In a landmark #PopulationGenomics study, All of Us researchers used #HiFisequencing of 1,027 participants to identify hundreds of #StructuralVariants disease associations, with over half missed by short reads. What are you missing in your research?

Read the study here: bit.ly/4ocq49K

#PacBio

Population-scale Long-read Sequencing in the All of Us Research Program

The All of Us Research Program (AoU) is a national biobank seeking to enroll one million individuals in the United States to link genomic and biomedical data, including short- and long-read whole-geno...

bit.ly

1 4

Reposted by Rhett Rautsaw

Maria Akopyan, PhD @akopyan.bsky.social · Sep 22

Now published in Cell! We found that ~15% of SNPs from divergent refs did not liftover as SNPs in the gray fox ref—half mapped to monomorphic sites, half failed to map. Co-authored with Matthew Genchev, @elliecat.bsky.social, and @jazlynmooney.bsky.social

www.sciencedirect.com/science/arti...

2 25 52

Reposted by Rhett Rautsaw

Rob Patro @robp.bsky.social · 24d

It absolutely warms my heart when I click on a pre-print that includes a bunch of top methods folks from industry and I see (1) open-source software (with a good license; MIT in this case) that is (2) written in Rust. Bravo @pacbio.bsky.social!

Moar Rust plz!

github.com/PacificBiosc...

6 19

Reposted by Rhett Rautsaw

Matt Holt @holtjma.bsky.social · 24d

I'm excited to share our pre-print about a new variant benchmarking tool we've been working on for the past few months!

Aardvark: Sifting through differences in a mound of variants
GitHub: github.com/PacificBiosc...

Some highlights in this thread:
1/N

1 17 33

Reposted by Rhett Rautsaw

PacBio @pacbio.bsky.social · 25d

The 2025 #Epigenetics SMRT Grant is open!

Submit a 100-word proposal for a chance to win free sequencing with Fiber-seq, which combines genome sequence, 5mC methylation, and chromatin accessibility for a multiomic view of regulation.

Apply here: bit.ly/4nGQrEW

1 3

Reposted by Rhett Rautsaw

NPR @npr.org · Oct 1

Today marks the first day in public media’s history without federal funding. And we’re not going anywhere.

Listeners like you keep our mission alive. Protect one of the last places where America comes together to hear itself.

Stand with us today. Donate at this link: n.pr/46wamAj

690 9.8K 31K

Reposted by Rhett Rautsaw

PacBio @pacbio.bsky.social · 29d

Did you know? Revio & Vega include on-instrument 6mA calling for the Fiber-seq chromatin accessibility assay. Thanks to Fiber-seq expert @mrvollger.bsky.social for the thoughtful evaluation and recommendation.

Reagents for the assay are also available from our friends at EpiCypher: bit.ly/42YwGQE

3 5

Reposted by Rhett Rautsaw

PacBio @pacbio.bsky.social · Sep 25

Can one test replace many?

A JAMA Pediatrics study by @childrensmercy.org evaluated long-read HiFi sequencing as a first-line approach for pediatric rare disease research, with potential to improve solves, reduce turnaround time, and bypass multiple sequential testing.

Read more: bit.ly/3VtHjHh

Children's Mercy @childrensmercy.org · Sep 22

Our new study in Journal of the American Medical Association Pediatrics shows a single long-read sequencing test can ID rare genetic conditions in kids faster & more accurately. This means fewer tests, quicker answers & a potential breakthrough.
@research.childrensmercy.org
https://cmkc.link/4gFemlo

Unlocking Answers Faster: Children’s Mercy Revolutionizes Genetic Disease Diagnosis with a Single-Test

Children’s Mercy, one of the nation’s top independent pediatric health systems, is once again leading the way in genomic medicine. In a landmark study, published in the prestigious Journal of the Amer...

cmkc.link

1 2

Reposted by Rhett Rautsaw

PacBio @pacbio.bsky.social · Sep 22

🚨 Last call! This week, join PAG’s free webinar to see how long-read low-pass sequencing and pangenomes are reshaping #genomics.

From structural variation to trait discovery, explore scalable insights across species. Sponsored by #PacBio.

Register: bit.ly/4mbCkFU

1 2

Reposted by Rhett Rautsaw

PacBio @pacbio.bsky.social · Sep 15

The 2025 Long-Read Low Pass SMRT Grant for plant + animal sciences is now open! 🌱🐾

Apply to win free PacBio HiFi sequencing for your conservation or agricultural research.

Submit your 100-word proposal today: bit.ly/3IgrReu

#PacBio #SMRTGrant #HiFisequencing

5 8

Reposted by Rhett Rautsaw

PacBio @pacbio.bsky.social · Sep 15

Ready to celebrate #ASHG25? 🎉

Join us at the PacBio Block Party on October 15 in Boston to network with fellow scientists, connect with the genomics community, and honor 25 years of discoveries and innovation.

RSVP now: bit.ly/46xnUeI

#PacBioBlockParty

1 4

Reposted by Rhett Rautsaw

Evolution @journal-evo.bsky.social · Sep 15

New Editor's Choice article:
"Island biogeography and competition drive rapid venom complexity evolution across rattlesnakes" by Hirst et al.
doi.org/10.1093/evol...
@hirsticane.bsky.social @RamsesRosales11.bsky.social @marcabeer.bsky.social @jason-strickland.bsky.social @reptilerhett.bsky.social

Volume 79, Issue 8
August 2025
Cover image

7 17

Rhett Rautsaw @reptilerhett.bsky.social · Sep 13

Vega has joined the @pacbio.bsky.social “lego” family. #HiFi #DNA #LongReads

Lego versions of PacBio Sequel IIe, Revio, Onso, and Vega instruments

2 7

Reposted by Rhett Rautsaw

PacBio @pacbio.bsky.social · Sep 11

From low-pass seq that scales discovery to pangenomes that reveal hidden variation, long-read technologies are transforming genomics.

Join PAG’s free webinar to explore insights reshaping research across the tree of life. Sponsored by #PacBio

Register: bit.ly/4mbCkFU

1 6

Reposted by Rhett Rautsaw

Shelly Gaynor @shellygaynor.bsky.social · Sep 10

Always excited for an increased salary submission! Congrats to the Department of Biological Sciences at New Jersey Institute of Tech for their stipend increase! This union-based win brings the pay almost to the 1:1 line! Update your department and find out more here: rhettrautsaw.app/shiny/Biolog...

Salary to Living Wage - only two points fall above the 1:1 line. A star indicates New Jersey Institute of Technology is almost to the 1:1 line!

12 37

Reposted by Rhett Rautsaw

PacBio @pacbio.bsky.social · Sep 9

Most RNA-seq methods feel like stir-fry. Transcripts diced into bits, then tossed back together.

HiFi long reads bring the whole roast. Full transcripts served intact, end to end.

Need to see how? Get the Seq 101 guide & a chance at a sponsored conference: bit.ly/3JminPa

#TheresHiFiForThat

1 1 3

Reposted by Rhett Rautsaw

PacBio @pacbio.bsky.social · Sep 8

Looking to adopt long-read sequencing in your lab?

The #PacBio Pre-Clinical Playbook has best practices, workflow guidance, case studies, and real-world insights to help you implement #HiFisequencing with confidence.

🔗 Download now: bit.ly/4mpZ85b

1 4