PacBio

12 Nov 2024

A little birdie told us we should migrate to bluer skies. 😉 Hello Bluesky world. 👋🌎 Please re-share this post so we can follow you and help to grow the genomics community on here! 🧬✨

What if a genetic variant creates a new CpG methylation site? 🔬 A recent study identified 1.3M+ de novo CpG sites using #PacBio HiFi sequencing, revealing variation that reference-based methods may miss. Explore more epigenetics research & our new guide. Read more: https://bit.ly/4syLv8s

Applications are open for the 2026 #PacBio Fiber-seq SMRT Grant! 🌱🐾 In 100 words or less, tell us how HiFi sequencing with EpiCypher (@epicypher.bsky.social) Fiber-seq could advance your plant or animal research. Up to 2 winners receive free sequencing! Apply now: bit.ly/4i7M719

Join our upcoming webinar on PureTarget and PCR-free HiFi sequencing! 🔬 Hear how labs use #PacBio PureTarget to characterize challenging genomic regions, reduce PCR-related bias & scale workflows. Bring your questions for a live Q&A! Register: https://bit.ly/48hdnV2

Catch up on the science from #ASHG26! 🧬 Watch highlights from our #PacBio Industry Workshop and three CoLabs, covering HiFi epigenetics, rare disease research, population-scale genomics, targeted sequencing & more. Thanks to all our speakers and collaborators!

One week until #LRUA2026! 🇸🇪 The #PacBio team is heading to Uppsala 2–4 November! Visit our booth, catch our company talk on Monday & corporate workshop on Tuesday. Want to talk HiFi in person? Book a 1:1 meeting: https://bit.ly/4yN4sGM See you next week!

We love to see how #PacBio is helping advance #HumanGenomics at #ASHG26. Follow this thread for some poster highlights. 🧵

Nina Gonzaludo from #PacBio is at poster 2054T discussing advances toward rapid HiFi long-read whole-genome sequencing for time-critical rare disease applications. #ASHG26

Happening now at #ASHG26! Guilherme De Sena Brandine from #PacBio is at poster 7064F presenting on simultaneous genetic and epigenetic profiling of the human genome at single-base resolution using HiFi sequencing. Stop by before 4:30 PM!

We're live from our final CoLab at #ASHG26! 🧬 Join us as we explore how #PacBio PureTarget and SPRQ-Nx chemistry on Vega can help consolidate complex genetic testing into streamlined workflows. Follow this thread for live updates throughout the session! 🧵

Laura also highlights coverage variability across samples and validation runs. Despite differences in coverage, the team observed 100% variant calling concordance in both intra-run and inter-run assessments. #ASHG26 #PacBio

That's a wrap on our final CoLab at #ASHG26! 🧬 Thank you to our speakers for sharing insights into how #PacBio PureTarget and SPRQ-Nx on Vega can help streamline complex genetic testing. Have questions? Stop by booth #605 to chat with our team!

Next up, Laura Glaser from MGZ Medical Genetics Center shares how #PacBio PureTarget repeats can consolidate multiple assays into one PCR-free HiFi sequencing workflow. #ASHG26

Laura continues with a look at how her team validated the PureTarget Repeats workflow. Across four validation runs, they evaluated 25 repeat expansion loci using 46 positive controls representing 50 variants. #ASHG26 #PacBio

First up, Deborah Moine from #PacBio introduces PureTarget, enabling amplification-free HiFi sequencing of challenging genomic regions. From repeat expansions to complex genes, PureTarget preserves sequence context & methylation while offering flexible targeted workflows. #ASHG26

Deborah continues with how SPRQ-Nx chemistry improves PureTarget coverage and enables 96-sample workflows on Vega. With PT96 now compatible with Vega, researchers have more flexibility to scale targeted HiFi sequencing from smaller batches to higher throughput. #ASHG26 #PacBio

It's our final day at #ASHG26! Come see the #PacBio team at booth #605! 🧬 Here's what's in store for today: • Final CoLab at 10:15 AM in Theatre 1 • Enter our Apple Watch SE 3 raffle • Meet our scientists & explore HiFi sequencing • Play PacBio Plinko for prizes Full program: bit.ly/3TDejiN

We love to see how #PacBio is helping advance #HumanGenomics at #ASHG26. Follow this thread for some poster highlights. 🧵

Happening now at #ASHG26! 🔬 Xiao Chen from #PacBio is at poster 8175T presenting on how HiFi sequencing can help resolve the complex D4Z4 repeat associated with facioscapulohumeral muscular dystrophy (FSHD). Stop by before 6:15 p.m. to learn more!

Jocelyne Bruand from #PacBio is at poster 8159T sharing Kinnex-IsoSeq-WDL workflows for high-throughput analysis of HiFi full-length RNA data. #ASHG26

Our first #ASHG26 raffle prize has been claimed! 🎉 Congrats to Elísabet Einarsdóttir from SciLifeLab NGI on winning Bose QuietComfort Earbuds! Two prizes remain! Visit #PacBio booth #605 for a chance to win an Apple Watch SE 3 or Garmin vívomove Sport. Full ASHG program: bit.ly/3TDejiN

We're live from the #PacBio Industry Workshop at #ASHG26! 🧬 Join us as we explore how HiFi sequencing is advancing large-scale genomics, from rare disease research to population-scale programs. Follow this thread for live updates and key takeaways! 🧵

Jonathan also highlights Sampled's renewed 5-year, up to $27.1M contract with the VA to support genomic analyses for the Million Veteran Program. The program includes #PacBio HiFi long-read WGS alongside other genomic and molecular assays. #ASHG26

That's a wrap on our #PacBio Industry Workshop at #ASHG26! 🧬 Great turnout today! Thank you to our speakers and everyone who joined us for insights into scaling HiFi genomics. Have questions? Stop by booth #605 to chat with our team!

Next up, Greenwood Genetic Center shares how they're using #PacBio long-read sequencing in clinical diagnostics. From whole-genome sequencing to targeted DNA and RNA assays, their approach helps investigate complex variants and splicing changes. #ASHG26

Jonathan Schultz from Sampled shares how HiFi sequencing maintains quality at scale. 📊 Across 3,300+ genomes, Sampled achieved 27.3× median coverage, with 99.7% reaching 15× or more and 99.5% of SMRT Cells at Q30 or better. #ASHG26 #PacBio

Aaron also introduces the new #PacBio Nanobind HT plus kit, designed to recover more DNA faster from blood, saliva & buccal samples. The bead-based workflow supports simpler automation and allows extracted DNA to move directly into library prep. #ASHG26

Finally, Aaron explores how multimodal #PacBio HiFi data can support AI modeling across metagenomics, RNA therapeutic design & human health research. He highlights collaborations with Basecamp Research, TychoBio & Verily Health to help advance data-driven discovery. #ASHG26

First up, Aaron Wenger from #PacBio highlights the growing adoption of HiFi sequencing. 📈 Cumulative customer sequencing yield has surpassed 250 petabases, alongside continued growth in scientific publications. #ASHG26

Next, Aaron shares how rapid #PacBio HiFi WGS has reduced the blood-to-VCF workflow from 50.5 to 27.5 hours. With faster DNA extraction, sequencing & analysis, the workflow now delivers comprehensive genomic data in under 30 hours. #ASHG26

We're live from CoLab 2 at #ASHG26! 🧬 Join us as we explore how #PacBio HiFi whole-genome sequencing is helping researchers investigate complex genomic variation and streamline clinical research workflows. Follow this thread for live updates! 🧵

Michael wraps up with a look at the clinical validation of long-read genome sequencing. He shares an overview of detected and undetected variants across small variants, structural variants, and other challenging genomic regions. #ASHG26 #PacBio

That's a wrap on CoLab 2 at #ASHG26! 🧬 Thank you to our speakers for sharing insights into #PacBio HiFi WGS for clinical research, from challenging genomic regions to workflow implementation and variant detection. Have questions? Stop by booth #605 to chat with our team!

Michael Kahl from Lurie Children's shares a case where prior short-read testing identified one TTN variant, but a second was suspected. Long-read sequencing helps investigate the repetitive TTN i-band region, which is difficult to resolve with short reads. #ASHG26

Michael then walks through their clinical workflow setup, combining Hamilton Microlab Prep, Volta Callisto & #PacBio Revio. The automated library prep is designed for small batches of 1–2 trios, with the potential to scale up to 40 trios per week. #ASHG26

First up, Nina Gonzaludo from #PacBio highlights the challenges of traditional rare disease testing, which can take 4–7+ years and involve an average of 14.7 genetic tests. HiFi WGS offers a more comprehensive view of genetic variation, with potential to streamline testing. #ASHG26

The #PacBio Industry Workshop is happening today at #ASHG26! 🧬 Hear from Greenwood Genetic Center, Broad Institute & Sampled on scaling HiFi sequencing across rare disease research and large-scale genomics. 📍 Room 513 DEF | 12:15–1:15 p.m. ET Learn more here: https://bit.ly/3TDejiN

We love to see how #PacBio is helping advance #HumanGenomics at #ASHG26. Follow this thread for some poster highlights. 🧵

Happening now at #ASHG26! 🔬 Deborah Moine from #PacBio is at poster 2046W sharing a one-hour automated HMW DNA extraction workflow from blood and saliva for HiFi sequencing. She's here until 4:30 p.m. ET. Stop by to learn more and ask questions!

Also happening at #ASHG26! Matt Holt (@holtjma.bsky.social) from #PacBio is at poster 8157W sharing how long-read sequencing identifies and refines genome-wide methylation signals across multiple tumor types. Stop by before 4:30 p.m. ET to hear more about the research and ask questions!

We're live from CoLab 1 at #ASHG26! 🧬 Join us as we explore how #PacBio HiFi sequencing captures DNA methylation and genetic variation to uncover new insights into disease-associated episignatures. Follow this thread for live updates throughout the session! 🧵

Christian also explores how existing episignatures can be applied to long-read sequencing data to help interpret variants of uncertain significance (VUS). Using KMT2A as an example, he highlights how methylation patterns can provide additional context for variant interpretation. #ASHG26

That's a wrap on our first CoLab at #ASHG26! 🧬 Thank you to our speakers for sharing insights into DNA methylation and disease-associated episignatures using #PacBio HiFi sequencing. Be sure to visit booth #605 with any questions! Full program here: bit.ly/3TDejiN

Next up, Sanaa highlights 100% concordance between episignature classifications using #PacBio HiFi methylation data and array results. These findings support further validation of this approach for episignature classification. #ASHG26

Next up, Christian Gilissen from @radboudumc.bsky.social shares how #PacBio HiFi methylation data can reveal imprinting and skewed X-inactivation. He highlights examples involving Temple syndrome and a pathogenic IQSEC2 variant, showing the value of methylation insights. #ASHG26 #ASHG2026

Guilherme continues with a look at #PacBio's epigenetics analysis pipeline, combining methylation, chromatin accessibility & phasing for allele-specific insights. Using MethBat for 5mC and Fiber-tools for 6mA, researchers can further analyze and interpret epigenetic data. #ASHG26 #ASHG2026

Sanaa Choufani from The Hospital for Sick Children shares how a KMT2D episignature remained detectable in a case with 31% mosaicism identified by #PacBio HiFi sequencing. This highlights how methylation analysis can complement genetic findings. #ASHG26 #ASHG2026

First up, Guilherme De Sena Brandine from #PacBio explores expanded epigenetics with 7-base HiFi sequencing. With 89% accuracy for 5mC calls, strand-specific 5hmC detection & 6mA calling for Fiber-seq, HiFi provides insights beyond DNA sequence alone. #ASHG26 #ASHG2026

Three PacBio CoLabs at #ASHG26 this week! 🧬 Join experts to explore DNA methylation, HiFi WGS for clinical research & complex genetic testing with PureTarget. Our first CoLab kicks off today at 12:15 PM in CoLab Theatre 1! Explore the full program: https://bit.ly/3TDejiN

Applications are open for the 2026 PureTarget SMRT Grant! Win a 24–96 sample project with PacBio PureTarget, including library prep and HiFi sequencing on Vega with SPRQ-Nx chemistry. Attending #ASHG26? Stop by booth #605 this week to meet our team and learn more! Apply: https://bit.ly/3TDejiN

#PacBio has arrived in Montréal for #ASHG26! 🇨🇦 Visit booth #605 to meet our scientists, see Revio & Vega in action, and explore how HiFi sequencing is advancing human genomics. Stay tuned for highlights throughout the week! Explore our program: https://bit.ly/3TDejiN

How many RNA samples fit on one Revio SMRT Cell? With the new Kinnex prep kits: • 12-fold: 8–10 samples at 10M S-reads each • 8-fold: 6 samples at 10M S-reads each with 0.9x cDNA cleanup Library prep takes ~1.5 days for up to 12 libraries. Available now: https://bit.ly/4APmLfM