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Apple cake for new year

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…

We're hiring! Join our team working with cutting-edge genomic technologies. Check out our new long-read sequencing tech position @ UW in Seattle: eichlerlab.gs.washington.edu/position.html #Genomics #UW #PacBio

Our multi-technology, large-pedigree dataset is now available for open exploration! 🌐📊 Dive into HiFi/ONT/Strand-Seq and Element data: github.com/Platinum-Pedig… Our preprint: biorxiv.org/content/10.110…

University of Washington biochemist David Baker has won the 2024 Nobel Prize in Chemistry for his pioneering work designing new proteins that can neutralize viruses, target cancer cells, and more. Read more from @uwmedicine: go.uw.edu/2024NobelPrize #NobelPrize #GoHuskies

Writing Editing

The rock show has started!

Don’t miss our #ASHG24 platform talk on genome-wide profiling of highly similar paralogous genes using #HiFisequencing. Learn how this powerful approach is helping unravel complex regions of the genome. Details: bit.ly/3XZLVpt #PacBio #Genomics

I'm happy to announce that SVTopo, a new computational tool from PacBio (github.com/PacificBioscie…), is ready for you to try. SVTopo creates simple images so you can rapidly understand complex changes in genome structure. See me and learn more at ASHG 2024 in Denver, poster 1180W

I am starting a new video series called WAY COOL GENOMICS! Join me as I showcase examples where genomics is used in a study that is important, impactful, – and just plain WAY COOL!

In Sweden, we've been running a nationwide pilot project using PacBio WGS for rare disease. Check out our results in this new paper! genome.cshlp.org/cgi/content/lo…

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

So excited to see this monumental product hit the market, big reads, from the bench!

✨Meet Vega- the first #PacBio HiFi benchtop system – bringing industry-leading and exceptionally accurate long reads to your lab. It’s all within reach. Learn more here: pacb.com/Vega #ASHG24 #ASHG2024 #Vega

My poster on long read pharmacogenomics with #PacBio HiFi is up for today at #ASHG24. Ping me on here if you want to meet before the poster session!

Great talk by Xiao Chen about application of Paraphase in Four Seasons 4. Learn more about the method in last year’s AJHG paper #ASHG24 cell.com/ajhg/fulltext/…

Curious to see the power of #Vega in action? Visit Booth 725 at #ASHG24 for a live demo! 👀 Our new HiFi benchtop system brings incredibly accurate long reads right to your lab—now with worry-free workflows and accessible pricing. Don’t miss this up-close look! #PacBio #ASHG2024

A 20x genome delivers ~99% of the variant calls as a 30x genome at two thirds the cost. #PacBio #ASHG24 #ASHG2024

The high accuracy, long read length, and multiomic insights of #PacBio HiFi sequencing surpass short-read data, positioning it to revolutionize national health initiatives with data essential for risk assessment and preventive care. #ASHG24 #ASHG2024

Beer, buddies and bioinformatics, what more could a guy need? Thanks Fritz Sedlazeck for a great visit!