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A Tue evening compilation of PacBio Iso-Seq #bioinformatics tools/resources/papers for your enjoyment - not intended to be comprehensive, but reflecting on what I've been asked on a lot recently 🧵/1

Given all the great feedback, we've cut a new release of pbfusion, improving accuracy, and ease of fusion gene discover, and visualization (1/2). github.com/PacificBioscie…

With our new shiny app, you can interactively explore fusion genes in Pacbio Iso-Seq data (single cell, bulk, and MAS-Seq). Pbfusion v0.2.2 is worth updating. Amazing work by Khi Pin Chua Dan Baker @velociroger Daniel Baker kpin.shinyapps.io/pbfusion_app/

Our APAC team and sales partners came together recently for a heartwarming day of giving back! We spent a day at the Village of Hope Danang, where we enjoyed creating fun moments for the children in their community. #PacBio #GivingBack

Are you working in neurodegenerative diseases and using (or want to use) long read RNA-Seq? The PacBio Long-read RNA Neurology Symposium is where you will hear the latest and greatest in this field with a lively cast including Jack Humphrey Anis Shahnaee Michael Gandal Khi Pin Chua and

Excited to share our new work using synchronized #Fiberseq + #MASSeq (i.e. long-read multi-ome sequencing) to resolve Mendelian conditions as part of the UDN. Many thanks to the family, collaborators, UW Medicine Newsroom, Brotman Baty, PacBio, and NIH. biorxiv.org/content/10.110…

I'm really excited to attend #ASHG2023 next week. I'm honored to talk about a pedigree that has been central to genomics (CEPH 1463). come learn about all the exciting updates: programs.pacb.com/l/1652/2023-08…

I'm pleased to announce the release of HiPhase v1.0.0! In addition to phasing small and structural variants from #PacBio #HiFi datasets, HiPhase now also includes support for phasing short tandem repeats (#STR) at the same time! Full release notes: github.com/PacificBioscie…

Major release of pbfusion-v0.4.0: Improved accuracy, better annotation of gene fusion calls, and fofn support. 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…

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

Happy that our manuscript describing TRGT is now available. If you would like to learn more about the importance of tandem repeats and the variation that must be measured when studying them, please also check out the accompanying research briefing: nature.com/articles/s4158…

Capture based #HiFi sequencing of medically relevant genes. medrxiv.org/content/10.110…

So excited to have this preprint out! Severus is a new tool for somatic SV calling in cancer using long reads. It supports tumor/normal analysis, takes advantage of long-read phasing and can cluster and annotate complex SV events. medrxiv.org/content/10.110…

Local assembly of PacBio HiFi for exceptionally accurate structural variant detection. Work by Chris Saunders Matt Holt Billy 🌹 Daniel Baker Mike Eberle software: github.com/PacificBioscie… Preprint: doi.org/10.1101/2024.0…

Release of DeepSomatic v1.7 (github.com/google/deepsom…). Now supports tumor-only applications, now supports FFPE-prepared samples with specific models. New models to support exome and ONT. Improved accuracy and runtime improvements.

Very excited to share our work on building a benchmark of all classes of variation based on the large CEPH-1463 pedigree sequenced with all the technologies. A large team effort! biorxiv.org/content/10.110…

Today, we announced the first #PacBio benchtop long-read sequencing system, Vega. #Vega delivers all the functionality of #Revio into a compact, lower- throughput benchtop platform. bit.ly/3O0mP5b #ASHG24 #ASHG2024