Today, we announce two new high throughput library preparation kits and workflows that will offer never-before-achieved scale for #Revio . Learn more about these automated, scalable, and high-performance library preparation solutions: pacb.com/press_releases…

#PacBio #AGBT #AGBT 24

Characterization and visualization of tandem repeats at genome scale go.nature.com/3TKX7FF

HiPhase v1.1.0 is out with some compute performance improvements by removing extra churn from unphaseable variants. In some instances, we noticed up to 60% (!!) reduction in wall-clock time.

Full set of changes available here:
github.com/PacificBioscie…

HiFiHLA: A new tool for calling HLA star alleles directly from PacBio diploid genome assemblies. Authored by John Harting

github.com/PacificBioscie…

I'm hiring a Senior Software Engineer PacBio with focus on improving & productizing ML algorithms. You can work remotely from Europe / USA, or local in Menlo Park.

This is a one time chance to join the long-read bioinformatics instrument team.
linkedin.com/jobs/view/3715…

Today we report in Science Magazine a one-time base editing treatment for Spinal Muscular Atrophy (SMA), the leading genetic cause of infant mortality worldwide, affecting ~1 in 10,000 births. science.org/doi/10.1126/sc…
PDF: drive.google.com/file/d/1H1k8AA…
1/17

.PacBio: Introducing Paraphase by PacBio — an informatics method for uncovering secrets of spinal muscular atrophy ift.tt/vIY5zWH

Super excited to see our manuscript about complete genotyping of SMN1 and SMN2 using PacBio HiFi reads with our new software tool, paraphase. This work was led by xiaochen in collaboration with scientists at Genomics England #radboundumc and Children's Mercy Research Institute authors.elsevier.com/sd/article/S00…

Want to know more about Paraphase? Check out github.com/PacificBioscie…

New! Check out Paraphase, a method that uses @pacbio seq data to enable in-depth SMN1 & SMN2 profiling
bit.ly/3wdfx5h

We are presenting our targeted iso-seq work on GBA1 and GBAP1 today ASHG #ASHG22 poster #PB3112 and at tomorrow's long-read session in Hall F. Please come by if you are interested in this work and we are happy to discuss it. biorxiv.org/content/10.110…

Have you heard about Revio by PacBio at #ASHG22 ? It is such an amazing platform, 4x30-fold HiFi human genomes every 24 hours. Let me show you what it took to get this bioinformatics performance on the instrument. A thread on CCS GPU acceleration and DeepConsensus productization.

PacBio Announces Revio, a Revolutionary New Long Read Sequencing System Designed to Provide 15 Times More HiFi Data and Human Genomes at Scale for Under $1,000

 bit.ly/3ssMdWu

#PacBio #ASHG22

Are you at #ACMG2022 today? Make sure to connect with our Director of Rare and Inherited Disease, Ed Lee, who will be discussing new frontiers in clinical #genomics with #HiFisequencing . Our poster will be at eP469.

ACMG

Pro Tip: Customer Hostile is Never a Good Look omicsomics.blogspot.com/2022/02/pro-ti…

MUST WATCH: this new video from Wellcome Sanger Institute features some of the amazing science and scientists working on #DarwinTreeOfLife 🧬

It's a snapshot of the tireless work being undertaken by our partners the length and breadth of these islands.

youtube.com/watch?v=szFdV9…

First PacBio CCS release in 2022 and what a banger!

New algo to detect heteroduplex DNA molecules with on-the-fly strand splitting to generate two HiFi reads per ZMW. Check out the docs ccs.how/faq/mode-heter…

Now available on bioconda.

Today we announced that our new HiFiViral SARS-CoV-2 solution has successfully sequenced & captured the entire genome of the #Omicron variant lineage. Read our press release, including results from inqaba biotec, to learn more: ow.ly/kjPi50HjU6L

Our HiFiViral kit is being used globally for genomic surveillance of SARS-CoV-2 variants. We believe our solution will capture & sequence the full genome for all variant types, including #Omicron , without coverage gaps or dropouts. This is critical for #publichealth .

With MIPs, probe arms can fail to hybridize due to mutation...but...each base is covered by an ave of 22 probes, so we don't expect gaps in coverage 5/12