Latest posts tagged with #PacBio on Bluesky
Cancer is complex. Your sequencing shouldn’t be.
Discover how #PacBio HiFi sequencing reveals the full spectrum of cancer variation, from structural variants and methylation to RNA isoforms and fusions, in a single technology.
Check out the brochure: bit.ly/4sCizuO
#CancerResearch
How can HiFi sequencing unlock deeper insights into cancer biology than short reads for gene fusions and isoforms?
Our new series shows how researchers use #PacBio to drive discoveries in methylation and structural variation.
Watch here: bit.ly/3P78pnA
#CancerResearch #HiFisequencing
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
See you there soon!
Step inside the research shaping the future of cancer genomics.
See how #PacBio HiFi sequencing uncovers hundreds of structural variants, novel isoforms predicting survival, and fusions with treatment implications all in a single technology.
Guide here: bit.ly/4b83Z8E
#CancerResearch
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
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
A new paper in Cell Genomics validates how #PacBio HiFi sequencing unlocks ASD research.
By replacing multiple assays with one workflow, researchers saw a 33% increase in SV detection and a 38% increase in tandem repeat detection.
Read the study: bit.ly/4sAnkFd
#ASD #PacBio #HiFisequencing
11,674 steps toward hope.
Sean Baumstark, founder of De:terminence, Inc., is climbing the world’s longest stairway this July. Living with Friedreich’s ataxia, his journey reminds us why the work in our labs matters.
Join us at #PacBioPRISM: bit.ly/4bi8AUy
#PacBio #FriedreichsAtaxia
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
How does HiFi capture epigenetics in one run?
When a base is modified, its incorporation rate shifts. HiFi measures these kinetic signatures to detect 5mC and 6mA automatically with no extra library prep.
Watch our newest explainer video to see how: bit.ly/3YSPBdo
#TheresHiFiForThat #PacBio
Decoding cancer requires resolving transcript diversity within intact tissue.
Join our webinar to see how long-read sequencing and near-single-cell spatial transcriptomics reveal isoform diversity and map immune receptor clonotypes in tumors.
Register: bit.ly/4bsBanl
#PacBio #CancerResearch
The strain is susceptible to #metronidazole, #vancomycin and fidaxomicin, but the #PacBio -generated complete genome shows it harbors different #AMR genes (as is the case for other NTCD).
One molecule. Multiple layers of biology.
HiFi sequencing = multiomic insights.
It reveals the genome, structural variants, full-length isoforms, and base-level methylation. All in one run. All from the same molecule.
Get the full picture: bit.ly/3YSPBdo
#PacBio #HiFisequencing #Multiomics
Live webinar: March 27th at 8 AM PT | 11 AM ET. "Resolving Challenging Genetic Variants in Carrier Screening Using Long-Read Technology." Speakers: Theresa Wohlever Customer Success Manager DNAnexus, Jack Roach Computational Scientist Myriad Genetics, Sam Pearlman Senior Software Engineer Myriad Genetics, Deborah Moine Senior Product Manager PacBio, Tom Mokveld Bioinformatics Scientist PacBio.
Learn how long-read sequencing assays are being deployed to improve prenatal carrier screening: event.on24.com/wcc/r/525686...
#Diagnostics #Genetics #StructuralVariants #PacBio #MyriadGenetics #PrenatalScreening
What happens when a condition shifts from rare to widespread?
In Episode 3 of Beyond the Bench, Dr. Birgitt Scheule explains what it means to shift from studying isolated cases to addressing disease at population scale.
Watch now: bit.ly/4oLrOXu
#BeyondTheBench #PacBio #HiFisequencing
Color the future of genomics at PRISM 2026.
Join us to see how HiFi sequencing evolves in real time. Meet our experts in person and hear research already influencing study design and results for large-scale studies.
Secure your place: bit.ly/4slZxZs
#PacBioPRISM #PacBio
Heading to ACMG 2026 in Baltimore?
Visit PacBio at booth #2321 to see how HiFi sequencing is redefining genetic testing. Learn about the Vega system and how to consolidate assays for rare disease and PGx research.
Full program here: bit.ly/3OBZmee
#ACMGMtg26 #PacBio #HiFisequencing #ACMG
Want epigenetic information automatically included in your sequencing runs?
HiFi sequencing detects 5mC and 6mA directly from native DNA and combines multiple passes of the same molecule to generate long reads with greater than 99.9% accuracy.
See how: bit.ly/3YSPBdo
#PacBio #HiFisequencing
Rare Disease Month reminded us why we show up for families and the science driving answers.
We’re not stopping there. Pre-registration is open for Seq It Forward: Run for Rare 5K in June, supporting iHope and rare disease families.
Register: bit.ly/4u33kwB
#SeqItForward5K #PacBio #RareDisease #5K
A new era for #ONT amplicon sequencing?
We show that #ONT #amplicon sequencing now achieves accuracy sufficient for #ASV resolution using standard Illumina-based pipelines. We validated this by sequencing identical amplicons on #ONT and #PacBio. @nanoporetech.com www.biorxiv.org/content/10.6...
Rare Disease Month has been about stories, science, and community.
Today on Rare Disease Day, PacBio is proud to sponsor San Diego’s event, standing with families, healthcare providers, researchers, and advocates advancing rare disease awareness and research.
#WeCareForRare #PacBio #RareDiseaseDay
#PacBio is proud to join the International Rare Diseases Research Consortium (IRDiRC)!
We’re joining forces with global stakeholders to advance rare disease research and equitable genomic discovery. Together, we move forward.
Details: bit.ly/4b8PqkW
#WeCareForRare #RareDisease #RareDiseaseMonth
We've seen a big increase in the number of long-read #metagenomics publications, especially those using #PacBio HiFi data. Also very encouraging to all the new tools for long-read metagenome assembly & taxonomic profiling.
Complete list of publications: github.com/PacificBiosc...
Rare disease research works best when communities unite.
This week’s blog explores hackathons where clinicians, researchers, and families collaborate to solve cases, share insights, and strengthen networks that advance progress worldwide.
Full blog here: bit.ly/4ucRXlU
#WeCareForRare #PacBio
New from Miami University: Dr. @andorjkiss.bsky.social and his lab’s work featured in BEYOND THE BENCH.
Students are generating long-read sequencing data in-house and learning how sequencing strategy shapes discovery.
Read the story: bit.ly/4aFSgMS
#BeyondTheBench #PacBio #HiFisequencing
For people with rare diseases, delayed explanations are a burden. New data from @radboudumc.bsky.social shows HiFi genomes can help replace a patchwork of tests with one unified approach. This consolidation provides clearer explanations sooner.
Read more: bit.ly/4tB04bs
#WeCareForRare #PacBio
🦖 Alligators survived. Dinosaurs did not. Why?
In Episode 2 of BEYOND THE BENCH, Dr. Andor Kiss uses HiFi long-read sequencing on Vega to resolve crystallin isoforms across species and reveals changes tied to cold adaptation and cataracts.
See how he did it: bit.ly/4oLrOXu
#PacBio
Repeat expansions and complex regions still challenge PCR and short reads.
See how labs use PureTarget with PCR-free HiFi sequencing of native DNA to build scalable custom panels and improve confidence across difficult loci.
Save your spot: bit.ly/3MElTWS
#PacBio #PureTarget #HiFisequencing
Rare disease is more than statistics. It is lived every day by families searching for answers.
For Rare Disease Month, we share global, People-First stories showing how earlier genomics and long-read WGS can shorten diagnostic journeys.
Details: bit.ly/3ZyEczS
#WeCareForRare #PacBio #RareDisease
Progress in rare disease research starts with access.
#PacBio is proud to join iHope, a global initiative of Genetic Alliance, bringing long read whole genome sequencing to underserved families worldwide. Because progress should be global and within reach.
Details: bit.ly/3OFfviI
#WeCareForRare
